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957

Indications

(1) Does the request meet this criterion: Carelon Genetic Testing Management Program, #954? 
(2) Does the request meet this criterion: Biomarkers for the Diagnosis and Cancer Risk Assessment of Prostate Cancer, #336? 
(3) Does the request meet this criterion: Cardiovascular Risk Panels, #664? 
(4) Does the request meet this criterion: Preimplantation Genetic Testing, #088? 
(5) Does the request meet this criterion: Medicare Advantage Management, #132 Commercial Products The following CPT and HCPCS codes are in-scope under the Carelon Genetic Testing Management Program for Commercial products effective January 1, 2019. For medical necessity criteria, see Carelon Medical? 

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Medical Policy Carelon Genetic Testing Management Program CPT and HCPCS Codes Policy Number: 957 BCBSA Reference Number: N/A NCD/LCD: N/A Effective Date: January 1, 2019 Related Policies
• Carelon Genetic Testing Management Program, #954
• Biomarkers for the Diagnosis and Cancer Risk Assessment of Prostate Cancer, #336 • Cardiovascular Risk Panels, #664 • Preimplantation Genetic Testing, #088 • Medicare Advantage Management, #132

Commercial Products The following CPT and HCPCS codes are in-scope under the Carelon Genetic Testing Management Program for Commercial products effective January 1, 2019. For medical necessity criteria, see Carelon Medical Benefits Management Clinical Guidelines.

Medicare Advantage Products The following CPT and HCPCS codes are in-scope under the Carelon Genetic Testing Management Program for Medicare Advantage products effective January 1, 2025. For medical necessity criteria, see Carelon Medical Benefits Management Clinical Guidelines.

Requesting Prior Authorization Information through Carelon Medical Benefits Management: To request prior authorization for the following products, please see instructions below.
• Commercial Managed Care (HMO and POS) and Commercial PPO/EPO (PA requirement in effect since 1/1/2019) • Medicare HMO Blue and Medicare PPO Blue (PA requirement effective 1/1/2025)

  1. Through the Blue Cross Blue Shield of Massachusetts website: • Log in to your Blue Cross Blue Shield of Massachusetts Provider Central account at www.bluecrossma.com/provider. • Click eTools> and then to Carelon Medical Benefits Management • Click Go Now

  2. Going directly to Carelon ProviderPortal (registration is required) • Go to www.providerportal.com • Or calling 1-866-745-1783 (when applicable).

    Requesting Prior Authorization Information through BCBSMA: This only applies to Medical Policy #088 Preimplantation Genetic Testing.

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To request prior authorization for the following products: Commercial Managed Care (HMO and POS) and Commercial PPO and Indemnity and Medicare HMO Blue and Medicare PPO Blue, please see instructions below.

Through the Blue Cross Blue Shield of Massachusetts website: • Log in to your Blue Cross Blue Shield of Massachusetts Provider Central account at www.bluecrossma.com/provider. • Prior authorization is required for the following biopsy codes only:
o 89290 Biopsy, oocyte polar body or embryo blastomere, microtechnique (for pre-implantation genetic diagnosis); less than or equal to 5 embryos o 89291 Biopsy, oocyte polar body or embryo blastomere, microtechnique (for pre-implantation genetic diagnosis); greater than 5 embryos • No additional authorization is required for genetic testing when the biopsy has been approved.

The following BCBSMA medical policy is used instead of the Carelon guideline on reproductive carrier screening and prenatal diagnosis: • BCBSMA Medical Policy #088 Preimplantation Genetic Testing (including preimplantation genetic diagnosis). The policy is only available on the BCBSMA medical policy website. • Prior authorization is required through BCBSMA. See instructions below.

The utilization management of molecular genetic testing through Carelon Medical Benefits Management does not include the following: • Cytogenetics
• Human Leukocyte Antigen (HLA) testing
• Human Platelet Antigen (HPA) testing.

CPT codes and HCPCS that apply to BCBSMA Medical Policy #088 are found on the policy. Do not use BCBSMA Policy #957 to look up codes for Preimplantation Genetic Testing.

Molecular genetic/genomic testing that does not meet coverage criteria listed in these clinical guidelines may be considered experimental/investigational or not medically necessary, and therefore not covered.

Genetic testing is covered only when the patient meets coverage criteria outlined in the corresponding guideline or in the BCBSMA Medical Policy. Carelon guidelines are available at Guidelines.carelonmedicalbenefitsmanagement.com.

CPT Codes: CPT codes Code Description
81120 IDH1 (isocitrate dehydrogenase 1 [NADP+], soluble) (eg, glioma), common variants (eg, R132H, R132C) 81121 IDH2 (isocitrate dehydrogenase 2 [NADP+], mitochondrial) (eg, glioma), common variants (eg, R140W, R172M) 81161 DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy) deletion analysis, and duplication analysis, if performed 81162 BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis (ie, detection of large gene rearrangements) 81163
BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis 81164 BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) 81165 BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis 81166 BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements)

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81167 BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) 81168 CCND1/IGH (t(11;14)) (eg, mantle cell lymphoma) translocation analysis, major breakpoint, qualitative and quantitative, if performed 81170 ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) (eg, acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain 81171 AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2 [FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles 81172 AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2 [FRAXE]) gene analysis; characterization of alleles (eg, expanded size and methylation status) 81173 AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; full gene sequence 81174 AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; known familial variant 81175 ASXL1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; full gene sequence 81176 ASXL1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; targeted sequence analysis (eg, exon 12) 81177 ATN1 (atrophin 1) (eg, dentatorubral-pallidoluysian atrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81178 ATXN1 (ataxin 1) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81179 ATXN2 (ataxin 2) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81180 ATXN3 (ataxin 3) (eg, spinocerebellar ataxia, Machado-Joseph disease) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81181 ATXN7 (ataxin 7) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81182 ATXN8OS (ATXN8 opposite strand [non-protein coding]) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81183 ATXN10 (ataxin 10) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81184 CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; evaluation to detect abnormal (eg, expanded) alleles 81185 CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; full gene sequence 81186 CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; known familial variant 81187 CNBP (CCHC-type zinc finger nucleic acid binding protein) (eg, myotonic dystrophy type 2) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81188 CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles 81189 CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; full gene sequence 81190 CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; known familial variant(s) 81191 NTRK1 (neurotrophic receptor tyrosine kinase 1) (eg, solid tumors) translocation analysis 81192 NTRK2 (neurotrophic receptor tyrosine kinase 2) (eg, solid tumors) translocation analysis 81193 NTRK3 (neurotrophic receptor tyrosine kinase 3) (eg, solid tumors) translocation analysis 81194 NTRK (neurotrophic-tropomyosin receptor tyrosine kinase 1, 2, and 3) (eg, solid tumors) translocation analysis 81195 Cytogenomic analysis, optical genome mapping 81200 ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X) 81201 APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; full gene sequence

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81202 APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; known familial variants 81203 APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; duplication/deletion variants 81204 AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; characterization of alleles (eg, expanded size or methylation status) 81205 BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X) 81206 BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; major breakpoint, qualitative or quantitative 81207 BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; minor breakpoint, qualitative or quantitative 81208 BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; other breakpoint, qualitative or quantitative 81209 BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant 81210 BRAF (B-Raf proto-oncogene, serine/threonine kinase) (eg, colon cancer, melanoma), gene analysis, V600 variant(s) 81212 BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC, 6174delT variants 81215 BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; known familial variant 81216 BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis 81217 BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; known familial variant 81218 CEBPA (CCAAT/enhancer binding protein [C/EBP], alpha) (eg, acute myeloid leukemia), gene analysis, full gene sequence 81219 CALR (calreticulin) (eg, myeloproliferative disorders), gene analysis, common variants in exon 9 81220 CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines) 81221 CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; known familial variants 81222 CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; duplication/deletion variants 81223 CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence 81224 CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; intron 8 poly-T analysis (eg, male infertility) 81225 CYP2C19 (cytochrome P450, family 2, subfamily C, polypeptide 19) (eg, drug metabolism), gene analysis, common variants (eg, 2, 3, 4, 8, 17) 81226 CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism), gene analysis, common variants (eg, 2, 3, 4, 5, 6, 9, 10, 17, 19, 29, 35, 41, 1XN, 2XN, 4XN) 81227 CYP2C9 (cytochrome P450, family 2, subfamily C, polypeptide 9) (eg, drug metabolism), gene analysis, common variants (eg, 2, 3, 5, 6) 81228 Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (eg, bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis) 81229 Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities 81230 CYP3A4 (cytochrome P450 family 3 subfamily A member 4) (eg, drug metabolism), gene analysis, common variant(s) (eg, 2, 22)

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81231 CYP3A5 (cytochrome P450 family 3 subfamily A member 5) (eg, drug metabolism), gene analysis, common variants (eg, 2, 3, 4, 5, 6, 7) 81232 DPYD (dihydropyrimidine dehydrogenase) (eg, 5-fluorouracil/5-FU and capecitabine drug metabolism), gene analysis, common variant(s) (eg, 2A, 4, 5, 6) 81233 BTK (Bruton's tyrosine kinase) (eg, chronic lymphocytic leukemia) gene analysis, common variants (eg, C481S, C481R, C481F) 81234 DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; evaluation to detect abnormal (expanded) alleles 81235 EGFR (epidermal growth factor receptor) (eg, non-small cell lung cancer) gene analysis, common variants (eg, exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q) 81236 EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (eg, myelodysplastic syndrome, myeloproliferative neoplasms) gene analysis, full gene sequence 81237 EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (eg, diffuse large B-cell lymphoma) gene analysis, common variant(s) (eg, codon 646) 81238 F9 (coagulation factor IX) (eg, hemophilia B), full gene sequence 81239 DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; characterization of alleles (eg, expanded size) 81240 F2 (prothrombin, coagulation factor II) (eg, hereditary hypercoagulability) gene analysis, 20210G>A variant 81241 F5 (coagulation factor V) (eg, hereditary hypercoagulability) gene analysis, Leiden variant 81242 FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A>T) 81243 FMR1 (fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; evaluation to detect abnormal (eg, expanded) alleles 81244 FMR1 (fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; characterization of alleles (eg, expanded size and promoter methylation status) 81245 FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; internal tandem duplication (ITD) variants (ie, exons 14, 15) 81246 FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; tyrosine kinase domain (TKD) variants (eg, D835, I836) 81247 G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; common variant(s) (eg, A, A-) 81248 G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; known familial variant(s) 81249 G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; full gene sequence 81250 G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X) 81251 GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A) 81252 GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; full gene sequence 81253 GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; known familial variants 81254 GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (eg, nonsyndromic hearing loss) gene analysis, common variants (eg, 309kb [del(GJB6-D13S1830)] and 232kb [del(GJB6- D13S1854)]) 81255 HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S) 81256 HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D) 81257 HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; common deletions or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, Constant Spring) 81258 HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; known familial variant

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81259 HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; full gene sequence 81260 IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex- associated protein) (eg, familial dysautonomia) gene analysis, common variants (eg, 2507+6T>C, R696P) 81261 IGH@ (Immunoglobulin heavy chain locus) (eg, leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); amplified methodology (eg, polymerase chain reaction) 81262 IGH@ (Immunoglobulin heavy chain locus) (eg, leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); direct probe methodology (eg, Southern blot) 81263 IGH@ (Immunoglobulin heavy chain locus) (eg, leukemia and lymphoma, B-cell), variable region somatic mutation analysis 81264 IGK@ (Immunoglobulin kappa light chain locus) (eg, leukemia and lymphoma, B-cell), gene rearrangement analysis, evaluation to detect abnormal clonal population(s) 81265 Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non- hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] 81266 Comparative analysis using Short Tandem Repeat (STR) markers; each additional specimen (eg, additional cord blood donor, additional fetal samples from different cultures, or additional zygosity in multiple birth pregnancies) (List separately in addition to code for primary procedure) 81269 HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; duplication/deletion variants 81270 JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, p.Val617Phe (V617F) variant 81271 HTT (huntingtin) (eg, Huntington disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles 81272 KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, gastrointestinal stromal tumor [GIST], acute myeloid leukemia, melanoma), gene analysis, targeted sequence analysis (eg, exons 8, 11, 13, 17, 18) 81273 KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, mastocytosis), gene analysis, D816 variant(s) 81274 HTT (huntingtin) (eg, Huntington disease) gene analysis; characterization of alleles (eg, expanded size) 81275 KRAS (Kirsten rat sarcoma viral oncogene homolog) (eg, carcinoma) gene analysis; variants in exon 2 (eg, codons 12 and 13) 81276 KRAS (Kirsten rat sarcoma viral oncogene homolog) (eg, carcinoma) gene analysis; additional variant(s) (eg, codon 61, codon 146) 81277 Cytogenomic neoplasia (genome-wide) microarray analysis, interrogation of genomic regions for copy number and loss-of-heterozygosity variants for chromosomal abnormalities 81278 IGH@/BCL2 (t(14;18)) (eg, follicular lymphoma) translocation analysis, major breakpoint region (MBR) and minor cluster region (mcr) breakpoints, qualitative or quantitative 81279 JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) targeted sequence analysis (eg, exons 12 and 13) 81283 IFNL3 (interferon, lambda 3) (eg, drug response), gene analysis, rs12979860 variant 81284 FXN (frataxin) (eg, Friedreich ataxia) gene analysis; evaluation to detect abnormal (expanded) alleles 81285 FXN (frataxin) (eg, Friedreich ataxia) gene analysis; characterization of alleles (eg, expanded size) 81286 FXN (frataxin) (eg, Friedreich ataxia) gene analysis; full gene sequence 81287 MGMT (O-6-methylguanine-DNA methyltransferase) (eg, glioblastoma multiforme) promoter methylation analysis 81288 MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; promoter methylation analysis 81289 FXN (frataxin) (eg, Friedreich ataxia) gene analysis; known familial variant(s)

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81290 MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb) 81291 MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability) gene analysis, common variants (eg, 677T, 1298C) 81292 MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis 81293 MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants 81294 MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants 81295 MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis 81296 MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants 81297 MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants 81298 MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis 81299 MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants 81300 MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants 81301 Microsatellite instability analysis (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) of markers for mismatch repair deficiency (eg, BAT25, BAT26), includes comparison of neoplastic and normal tissue, if performed 81302 MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; full sequence analysis 81303 MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; known familial variant 81304 MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; duplication/deletion variants 81305 MYD88 (myeloid differentiation primary response 88) (eg, Waldenstrom's macroglobulinemia, lymphoplasmacytic leukemia) gene analysis, p.Leu265Pro (L265P) variant 81306 NUDT15 (nudix hydrolase 15) (eg, drug metabolism) gene analysis, common variant(s) (eg, 2, 3, 4, 5, *6) 81307 PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic cancer) gene analysis; full gene sequence 81308 PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic cancer) gene analysis; known familial variant 81309 PIK3CA (phosphatidylinositol-4, 5-biphosphate 3-kinase, catalytic subunit alpha) (eg, colorectal and breast cancer) gene analysis, targeted sequence analysis (eg, exons 7, 9, 20) 81310 NPM1 (nucleophosmin) (eg, acute myeloid leukemia) gene analysis, exon 12 variants 81311 NRAS (neuroblastoma RAS viral [v-ras] oncogene homolog) (eg, colorectal carcinoma), gene analysis, variants in exon 2 (eg, codons 12 and 13) and exon 3 (eg, codon 61) 81312 PABPN1 (poly[A] binding protein nuclear 1) (eg, oculopharyngeal muscular dystrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81313 PCA3/KLK3 (prostate cancer antigen 3 [non-protein coding]/kallikrein-related peptidase 3 [prostate specific antigen]) ratio (eg, prostate cancer) 81314 PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) (eg, gastrointestinal stromal tumor [GIST]), gene analysis, targeted sequence analysis (eg, exons 12, 18) 81315 PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg, promyelocytic leukemia) translocation analysis; common breakpoints (eg, intron 3 and intron 6), qualitative or quantitative 81316 PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg, promyelocytic leukemia) translocation analysis; single breakpoint (eg, intron 3, intron 6 or exon 6), qualitative or quantitative

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81317 PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis 81318 PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants 81319 PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants 81320 PLCG2 (phospholipase C gamma 2) (eg, chronic lymphocytic leukemia) gene analysis, common variants (eg, R665W, S707F, L845F 81321 PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis 81322 PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; known familial variant 81323 PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; duplication/deletion variant 81324 PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; duplication/deletion analysis 81325 PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; full sequence analysis 81326 PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; known familial variant 81327 SEPT9 (Septin9) (eg, colorectal cancer) promoter methylation analysis 81328 SLCO1B1 (solute carrier organic anion transporter family, member 1B1) (eg, adverse drug reaction), gene analysis, common variant(s) (eg, 5) 81329 SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; dosage/deletion analysis (eg, carrier testing), includes SMN2 (survival of motor neuron 2, centromeric) analysis, if performed 81330 SMPD1(sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330) 81331 SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide N and ubiquitin protein ligase E3A) (eg, Prader-Willi syndrome and/or Angelman syndrome), methylation analysis 81332 SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin, member 1) (eg, alpha-1-antitrypsin deficiency), gene analysis, common variants (eg, S and Z) 81333 TGFBI (transforming growth factor beta-induced) (eg, corneal dystrophy) gene analysis, common variants (eg, R124H, R124C, R124L, R555W, R555Q) 81334 RUNX1 (runt related transcription factor 1) (eg, acute myeloid leukemia, familial platelet disorder with associated myeloid malignancy), gene analysis, targeted sequence analysis (eg, exons 3-8) 81335 TPMT (thiopurine S-methyltransferase) (eg, drug metabolism), gene analysis, common variants (eg, 2, *3) 81336 SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; full gene sequence 81337 SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; known familial sequence variant(s) 81338 MPL (MPL proto-oncogene, thrombopoietin receptor) (eg, myeloproliferative disorder) gene analysis; common variants (eg, W515A, W515K, W515L, W515R) 81339 MPL (MPL proto-oncogene, thrombopoietin receptor) (eg, myeloproliferative disorder) gene analysis; sequence analysis, exon 10 81340 TRB@ (T cell antigen receptor, beta) (eg, leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using amplification methodology (eg, polymerase chain reaction) 81341 TRB@ (T cell antigen receptor, beta) (eg, leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using direct probe methodology (eg, Southern blot) 81342 TRG@ (T cell antigen receptor, gamma) (eg, leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population(s) 81343 PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

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81344 TBP (TATA box binding protein) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles 81345 TERT (telomerase reverse transcriptase) (eg, thyroid carcinoma, glioblastoma multiforme) gene analysis, targeted sequence analysis (eg, promoter region) 81346 TYMS (thymidylate synthetase) (eg, 5-fluorouracil/5-FU drug metabolism), gene analysis, common variant(s) (eg, tandem repeat variant) 81347 SF3B1 (splicing factor [3b] subunit B1) (eg, myelodysplastic syndrome/acute myeloid leukemia) gene analysis, common variants (eg, A672T, E622D, L833F, R625C, R625L) 81348 SRSF2 (serine and arginine-rich splicing factor 2) (eg, myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variants (eg, P95H, P95L) 81349 Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and loss-of-heterozygosity variants, low- pass sequencing analysis - Cytogenomic Constitutional Analysis Low Pass Sequencing 81350 UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, irinotecan metabolism), gene analysis, common variants (eg, 28, 36, *37) 81351 TP53 (tumor protein 53) (eg, Li-Fraumeni syndrome) gene analysis; full gene sequence 81352 TP53 (tumor protein 53) (eg, Li-Fraumeni syndrome) gene analysis; targeted sequence analysis (eg, 4 oncology) 81353 TP53 (tumor protein 53) (eg, Li-Fraumeni syndrome) gene analysis; known familial variant 81354 Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of structural and copy number variants, optical genome mapping (OGM) 81355 VKORC1 (vitamin K epoxide reductase complex, subunit 1) (eg, warfarin metabolism), gene analysis, common variant(s) (eg, -1639G>A, c.173+1000C>T) 81357 U2AF1 (U2 small nuclear RNA auxiliary factor 1) (eg, myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variants (eg, S34F, S34Y, Q157R, Q157P) 81360 ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine-rich 2) (eg, myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variant(s) (eg, E65fs, E122fs, R448fs) 81361 HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); common variant(s) (eg, HbS, HbC, HbE) 81362 HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); known familial variant(s) 81363 HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); duplication/deletion variant(s) 81364 HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); full gene sequence 81400 Molecular pathology procedure, Level 1(eg, identification of single germline variant [eg, SNP] by techniques such as restriction enzyme digestion or melt curve analysis) 81401 Molecular pathology procedure, Level 2 (eg, 2-10 SNPs, 1 methylated variant, or 1 somatic variant [typically using nonsequencing target variant analysis], or detection of a dynamic mutation disorder/triplet repeat) 81402 Molecular pathology procedure, Level 3 (eg, >10 SNPs, 2-10 methylated variants, or 2-10 somatic variants [typically using non-sequencing target variant analysis], immunoglobulin and T-cell receptor gene rearrangements, duplication/deletion variants of 1 exon, loss of heterozygosity [LOH], uniparental disomy [UPD]) 81403 Molecular pathology procedure, Level 4 (eg, analysis of single exon by DNA sequence analysis, analysis of >10 amplicons using multiplex PCR in 2 or more independent reactions, mutation scanning or duplication/deletion variants of 2-5 exons) 81404 Molecular pathology procedure, Level 5 (eg, analysis of 2-5 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis) 81405 Molecular pathology procedure, Level 6 (eg, analysis of 6-10 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 11-25 exons, regionally targeted cytogenomic array analysis) 81406 Molecular pathology procedure, Level 7 (eg, analysis of 11-25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic array analysis for neoplasia)

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81407 Molecular pathology procedure, Level 8 (eg, analysis of 26-50 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of >50 exons, sequence analysis of multiple genes on one platform) 81408 Molecular pathology procedure, Level 9 (eg, analysis of >50 exons in a single gene by DNA sequence analysis) 81410 Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis panel, must include sequencing of at least 9 genes, including FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK 81411 Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); duplication/deletion analysis panel, must include analyses for TGFBR1, TGFBR2, MYH11, and COL3A1 81412 Ashkenazi Jewish associated disorders (eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 9 genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1 81413 Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia); genomic sequence analysis panel, must include sequencing of at least 10 genes, including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A 81414 Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia); duplication/deletion gene analysis panel, must include analysis of at least 2 genes, including KCNH2 and KCNQ1 81415 Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis 81416 Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (List separately in addition to code for primary procedure) 81417 Exome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained exome sequence (eg, updated knowledge or unrelated condition/syndrome) 81418 Drug metabolism (eg, pharmacogenomics) genomic sequence analysis panel, must include testing of at least 6 genes, including CYP2C19, CYP2D6, and CYP2D6 duplication/deletion analysis 81419 Epilepsy genomic sequence analysis panel, must include analyses for ALDH7A1, CACNA1A, CDKL5, CHD2, GABRG2, GRIN2A, KCNQ2, MECP2, PCDH19, POLG, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, STXBP1, SYNGAP1, TCF4, TPP1, TSC1, TSC2, and ZEB2 81422 Fetal chromosomal microdeletion(s) genomic sequence analysis (eg, DiGeorge syndrome, Cri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood 81425 Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis 81426 Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator genome (eg, parents, siblings) (List separately in addition to code for primary procedure) 81427 Genome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained genome sequence (eg, updated knowledge or unrelated condition/syndrome) 81430 Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); genomic sequence analysis panel, must include sequencing of at least 60 genes, including CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, and WFS1 81431 Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); duplication/deletion analysis panel, must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes 81432 Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer, hereditary pancreatic cancer, hereditary prostate cancer), genomic sequence analysis panel, 5 or more genes, interrogation for sequence

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variants and copy number variants; genomic sequence analysis panel, must include sequencing of at least 10 genes, always including BRCA1, BRCA2, CDH1, MLH1, MSH2, MSH6, PALB2, PTEN, STK11, and TP53 81434 Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A 81435 Hereditary colon cancer-related disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis), genomic sequence analysis panel, 5 or more genes, interrogation for sequence variants and copy number variants 81437 Hereditary neuroendocrine tumor-related disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma), genomic sequence analysis panel, 5 or more genes, interrogation for sequence variants and copy number variants; genomic sequence analysis panel, must include sequencing of at least 6 genes, including MAX, SDHB, SDHC, SDHD, TMEM127, and VHL 81439 Hereditary cardiomyopathy (eg, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy), genomic sequence analysis panel, must include sequencing of at least 5 cardiomyopathy-related genes (eg, DSG2, MYBPC3, MYH7, PKP2, TTN) 81440 Nuclear encoded mitochondrial genes (eg, neurologic or myopathic phenotypes), genomic sequence panel, must include analysis of at least 100 genes, including BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP 81441 Inherited bone marrow failure syndromes (IBMFS) (eg, Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, GATA2 deficiency syndrome, congenital amegakaryocytic thrombocytopenia) sequence analysis panel, must include sequencing of at least 30 genes, including BRCA2, BRIP1, DKC1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, GATA1, GATA2, MPL, NHP2, NOP10, PALB2, RAD51C, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, SBDS, TERT, and TINF2 81442 Noonan spectrum disorders (eg, Noonan syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Noonan-like syndrome), genomic sequence analysis panel, must include sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1 81443 Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish- associated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (eg, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH) 81445 Targeted genomic sequence analysis panel, solid organ neoplasm, 5-50 genes (eg, ALK, BRAF, CDKN2A, EGFR, ERBB2, KIT, KRAS, MET, NRAS, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, if performed; DNA analysis or combined DNA and RNA analysis 81448 Hereditary peripheral neuropathies (eg, Charcot-Marie-Tooth, spastic paraplegia), genomic sequence analysis panel, must include sequencing of at least 5 peripheral neuropathy- related genes (eg, BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, SPTLC1) 81449 Targeted genomic sequence analysis panel, solid organ neoplasm, 5-50 genes (eg, ALK, BRAF, CDKN2A, EGFR, ERBB2, KIT, KRAS, MET, NRAS, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, if performed; RNA analysis 81450 Targeted genomic sequence analysis panel, hematolymphoid neoplasm or disorder, 5-50 genes (eg, BRAF, CEBPA, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MLL, NOTCH1, NPM1, NRAS), interrogation for sequence variants, and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; DNA analysis or combined DNA and RNA analysis

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81451 Targeted genomic sequence analysis panel, hematolymphoid neoplasm or disorder, 5-50 genes (eg, BRAF, CEBPA, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MLL, NOTCH1, NPM1, NRAS), interrogation for sequence variants, and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; RNA analysis 81455 Targeted genomic sequence analysis panel, solid organ or hematolymphoid neoplasm or disorder, 51 or greater genes (eg, ALK, BRAF, CDKN2A, CEBPA, DNMT3A, EGFR, ERBB2, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MET, MLL, NOTCH1, NPM1, NRAS, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; DNA analysis or combined DNA and RNA analysis 81456 Targeted genomic sequence analysis panel, solid organ or hematolymphoid neoplasm or disorder, 51 or greater genes (eg, ALK, BRAF, CDKN2A, CEBPA, DNMT3A, EGFR, ERBB2, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MET, MLL, NOTCH1, NPM1, NRAS, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; RNA analysis 81457 Solid organ neoplasm, genomic sequence analysis panel, interrogation for sequence variants; DNA analysis, microsatellite instability 81458 Solid organ neoplasm, genomic sequence analysis panel, interrogation for sequence variants; DNA analysis, copy number variants and microsatellite instability 81459 Solid organ neoplasm, genomic sequence analysis panel, interrogation for sequence variants; DNA analysis or combined DNA and RNA analysis, copy number variants, microsatellite instability, tumor mutation burden, and rearrangements 81460 Whole mitochondrial genome (eg, Leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS], myoclonic epilepsy with ragged-red fibers [MERFF], neuropathy, ataxia, and retinitis pigmentosa [NARP], Leber hereditary optic neuropathy [LHON]), genomic sequence, must include sequence analysis of entire mitochondrial genome with heteroplasmy detection 81462 Solid organ neoplasm, genomic sequence analysis panel, cell-free nucleic acid (eg, plasma), interrogation for sequence variants; DNA analysis or combined DNA and RNA analysis, copy number variants and rearrangements 81463 Solid organ neoplasm, genomic sequence analysis panel, cell-free nucleic acid (eg, plasma), interrogation for sequence variants; DNA analysis, copy number variants, and microsatellite instability 81464 Solid organ neoplasm, genomic sequence analysis panel, cell-free nucleic acid (eg, plasma), interrogation for sequence variants; DNA analysis or combined DNA and RNA analysis, copy number variants, microsatellite instability, tumor mutation burden, and rearrangements 81465 Whole mitochondrial genome large deletion analysis panel (eg, Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed 81470 X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); genomic sequence analysis panel, must include sequencing of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2 81471 X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); duplication/deletion gene analysis, must include analysis of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2 81479 Unlisted molecular pathology procedure 81493 Coronary artery disease, mRNA, gene expression profiling by real-time RT-PCR of 23 genes, utilizing whole peripheral blood, algorithm reported as a risk score 81504 Oncology (tissue of origin), microarray gene expression profiling of > 2000 genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as tissue similarity scores 81507 Fetal aneuploidy (trisomy 21, 18, and 13) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy

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81518 Oncology (breast), mRNA, gene expression profiling by real-time RT-PCR of 11 genes (7 content and 4 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithms reported as percentage risk for metastatic recurrence and likelihood of benefit from extended endocrine therapy 81519 Oncology (breast), mRNA, gene expression profiling by real-time RT-PCR of 21 genes, utilizing formalin-fixed paraffin embedded tissue, algorithm reported as recurrence score 81520 Oncology (breast), mRNA gene expression profiling by hybrid capture of 58 genes (50 content and 8 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a recurrence risk score 81521 Oncology (breast), mRNA, microarray gene expression profiling of 70 content genes and 465 housekeeping genes, utilizing fresh frozen or formalin-fixed paraffin-embedded tissue, algorithm reported as index related to risk of distant metastasis 81522 Oncology (breast), mRNA, gene expression profiling by RT-PCR of 12 genes (8 content and 4 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as recurrence risk score (Endopredict) 81523 Oncology (breast), mRNA, next-generation sequencing gene expression profiling of 70 content genes and 31 housekeeping genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as index related to risk to distant metastasis - MAAA Breast Cancer Metastasis RNA Sequencing 81524 Oncology (central nervous system tumor), DNA methylation analysis of at least 10,000 methylation sites, utilizing DNA extracted from formalin-fixed tumor tissue, algorithm(s) reported as probability of matching a reference tumor family and class, and MGMT (O-6- methylguanine-DNA methyltransferase) promoter methylation status, if performed 81525 Oncology (colon), mRNA, gene expression profiling by real-time RT-PCR of 12 genes (7 content and 5 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a recurrence score 81529 Oncology (cutaneous melanoma), mRNA, gene expression profiling by real-time RT-PCR of 31 genes (28 content and 3 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as recurrence risk, including likelihood of sentinel lymph node metastasis 81540 Oncology (tumor of unknown origin), mRNA, gene expression profiling by real-time RT-PCR of 92 genes (87 content and 5 housekeeping) to classify tumor into main cancer type and subtype, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported 81541 Oncology (prostate), mRNA gene expression profiling by real-time RT-PCR of 46 genes (31 content and 15 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a disease-specific mortality risk score 81542 Oncology (prostate), mRNA, microarray gene expression profiling of 22 content genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as metastasis risk score (Decipher) 81546 Oncology (thyroid), mRNA, gene expression analysis of 10,196 genes, utilizing fine needle aspirate, algorithm reported as a categorical result (eg, benign or suspicious) 81551 Oncology (prostate), promoter methylation profiling by real-time PCR of 3 genes (GSTP1, APC, RASSF1), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a likelihood of prostate cancer detection on repeat biopsy 81552 Oncology (uveal melanoma), mRNA, gene expression profiling by real-time RT-PCR of 15 genes (12 content and 3 housekeeping), utilizing fine needle aspirate or formalin-fixed paraffin-embedded tissue, algorithm reported as risk of metastasis 81554 Pulmonary disease (idiopathic pulmonary fibrosis [IPF]), mRNA, gene expression analysis of 190 genes, utilizing transbronchial biopsies, diagnostic algorithm reported as categorical result (eg, positive or negative for high probability of usual interstitial pneumonia [UIP]) 81558 Transplantation medicine (allograft rejection, kidney), mRNA, gene expression profiling 81595 Cardiology (heart transplant), mRNA, gene expression profiling by real-time quantitative PCR of 20 genes (11 content and 9 housekeeping), utilizing subfraction of peripheral blood, algorithm reported as a rejection risk score

0001U Red blood cell antigen typing, DNA, human erythrocyte antigen gene analysis of 35 antigens from 11 blood groups, utilizing whole blood, common RBC alleles reported

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0004M Scoliosis, DNA analysis of 53 single nucleotide polymorphisms (SNPs), using saliva, prognostic algorithm reported as a risk score 0005U Oncology (prostate) gene expression profile by real-time RT-PCR of 3 genes (ERG, PCA3, and SPDEF), urine, algorithm reported as risk score 0006M Oncology (hepatic), mRNA expression levels of 161 genes, utilizing fresh hepatocellular carcinoma tumor tissue, with alpha-fetoprotein level, algorithm reported as a risk classifier 0007M Oncology (gastrointestinal neuroendocrine tumors), real-time PCR expression analysis of 51 genes, utilizing whole peripheral blood, algorithm reported as a nomogram of tumor disease index 0011M Oncology, prostate cancer, mRNA expression assay of 12 genes (10 content and 2 housekeeping), RT-PCR test utilizing blood plasma and/or urine, algorithms to predict high- grade prostate cancer risk 0012M Oncology (urothelial), mRNA, gene expression profiling by real-time quantitative PCR of five genes (MDK, HOXA13, CDC2 [CDK1], IGFBP5, and XCR2), utilizing urine, algorithm reported as a risk score for having urothelial carcinoma 0013M Oncology (urothelial), mRNA, gene expression profiling by real-time quantitative PCR of five genes (MDK, HOXA13, CDC2 [CDK1], IGFBP5, and CXCR2), utilizing urine, algorithm reported as a risk score for having recurrent urothelial carcinoma 0016M Oncology (bladder), mRNA, microarray gene expression profiling of 209 genes, utilizing formalinfixed paraffin-embedded tissue, algorithm reported as molecular subtype (luminal, luminal infiltrated, basal, basal claudin-low, neuroendocrine-like) 0017M Oncology (diffuse large B-cell lymphoma [DLBCL]), mRNA, gene expression profiling by fluorescent probe hybridization of 20 genes, formalin-fixed paraffin-embedded tissue, algorithm reported as cell of origin 0020M Oncology (central nervous system), analysis of 30000 DNA methylation loci by methylation array, utilizing DNA extracted from tumor tissue, diagnostic algorithm reported as probability of matching a reference tumor subclass 0016U Oncology (hematolymphoid neoplasia), RNA, BCR/ABL1 major and minor breakpoint fusion transcripts, quantitative PCR amplification, blood or bone marrow, report of fusion not detected or detected with quantitation 0017U Oncology (hematolymphoid neoplasia), JAK2 mutation, DNA, PCR amplification of exons 12- 14 and sequence analysis, blood or bone marrow, report of JAK2 mutation not detected or detected 0018U Oncology (thyroid), microRNA profiling by RT-PCR of 10 microRNA sequences, utilizing fine needle aspirate, algorithm reported as a positive or negative result for moderate to high risk of malignancy 0019U Oncology, RNA, gene expression by whole transcriptome sequencing, formalin-fixed paraffin embedded tissue or fresh frozen tissue, predictive algorithm reported as potential targets for therapeutic agents 0022U Targeted genomic sequence analysis panel, non-small cell lung neoplasia, DNA and RNA analysis, 23 genes, interrogation for sequence variants and rearrangements, reported as presence/absence of variants and associated therapy(ies) to consider 0023U Oncology (acute myelogenous leukemia), DNA, genotyping of internal tandem duplication, p.D835, p.I836, using mononuclear cells, reported as detection or nondetection of FLT3 mutation and indication for or against the use of midostaurin 0026U Oncology (thyroid), DNA and mRNA of 112 genes, next-generation sequencing, fine needle aspirate of thyroid nodule, algorithmic analysis reported as a categorical result ("Positive, high probability of malignancy" or "Negative, low probability of malignancy") 0027U JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, targeted sequence analysis exons 12-15 0029U Drug metabolism (adverse drug reactions and drug response), targeted sequence analysis (ie, CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, SLCO1B1, VKORC1 and rs12777823) 0030U Drug metabolism (warfarin drug response), targeted sequence analysis (ie, CYP2C9, CYP4F2, VKORC1, rs12777823) 0031U CYP1A2 (cytochrome P450 family 1, subfamily A, member 2)(eg, drug metabolism) gene analysis, common variants (ie, 1F, 1K, 6, 7)

15

0032U COMT (catechol-O-methyltransferase)(drug metabolism) gene analysis, c.472G>A (rs4680) variant 0034U TPMT (thiopurine S-methyltransferase), NUDT15 (nudix hydroxylase 15)(eg, thiopurine metabolism), gene analysis, common variants (ie, TPMT 2, 3A, 3B, 3C, 4, 5, 6, 8, 12; NUDT15 3, 4, 5) 0036U Exome (ie, somatic mutations), paired formalin-fixed paraffin-embedded tumor tissue and normal specimen, sequence analyses 0037U Targeted genomic sequence analysis, solid organ neoplasm, DNA analysis of 324 genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, microsatellite instability and tumor mutational burden 0040U BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis, major breakpoint, quantitative 0045U Oncology (breast ductal carcinoma in situ), mRNA, gene expression profiling by realtime RT- PCR of 12 genes (7 content and 5 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as recurrence score 0046U FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia) internal tandem duplication (ITD) variants, quantitative 0047U Oncology (prostate), mRNA, gene expression profiling by real-time RT-PCR of 17 genes (12 content and 5 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a risk score 0048U Oncology (solid organ neoplasia), DNA, targeted sequencing of protein-coding exons of 468 cancer-associated genes, including interrogation for somatic mutations and microsatellite instability, matched with normal specimens, utilizing formalin-fixed paraffin-embedded tumor tissue, report of clinically significant mutation(s) 0049U NPM1 (nucleophosmin) (eg, acute myeloid leukemia) gene analysis, quantitative 0050U Targeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes, interrogation for sequence variants, copy number variants or rearrangements 0055U Cardiology (heart transplant), cell-free DNA, PCR assay of 96 DNA target sequences (94 single nucleotide polymorphism targets and two control targets), plasma 0060U Twin zygosity, genomic targeted sequence analysis of chromosome 2, using circulating cell- free fetal DNA in maternal blood 0069U Oncology (colorectal), microRNA, RT-PCR expression profiling of miR-31-3p, formalin-fixed paraffin-embedded tissue, algorithm reported as an expression score 0070U CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, common and select rare variants (ie, 2, 3, 4, 4N, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14A, 14B, 15, 17, 29, 35, 36, 41, 57, 61, 63, 68, 83, *xN) 0071U CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, full gene sequence (List separately in addition to code for primary procedure) 0072U CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, CYP2D6-2D7 hybrid gene) (List separately in addition to code for primary procedure) 0073U CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, CYP2D7-2D6 hybrid gene) (List separately in addition to code for primary procedure)
0074U CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, non-duplicated gene when duplication/multiplication is trans) (List separately in addition to code for primary procedure)
0075U CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, 5’ gene duplication/multiplication) (List separately in addition to code for primary procedure)
0076U CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, 3’ gene duplication/ multiplication) (List separately in addition to code for primary procedure) 0079U Comparative DNA analysis using multiple selected single-nucleotide polymorphisms (SNPs), urine and buccal DNA, for specimen identity verification 0087U Cardiology (heart transplant), mRNA gene expression profiling by microarray of 1283 genes, transplant biopsy tissue, allograft rejection and injury algorithm reported as a probability score

16

0088U Transplantation medicine (kidney allograft rejection), microarray gene expression profiling of 1494 genes, utilizing transplant biopsy tissue, algorithm reported as a probability score for rejection 0089U Oncology (melanoma), gene expression profiling by RTqPCR, PRAME and LINC00518, superficial collection using adhesive patch(es) 0090U Oncology (cutaneous melanoma), mRNA gene expression profiling by RT-PCR of 23 genes (14 content and 9 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a categorical result (ie, benign, indeterminate, malignant) 0094U Genome (eg, unexplained constitutional or heritable disorder or syndrome), rapid sequence analysis 0101U Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated (15 genes [sequencing and deletion/duplication], EPCAM and GREM1 [deletion/duplication only]) 0102U Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated (17 genes [sequencing and deletion/duplication]) 0103U Hereditary ovarian cancer (eg, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated (24 genes [sequencing and deletion/duplication], EPCAM [deletion/duplication only]) 0111U Oncology (colon cancer), targeted KRAS (codons 12, 13, and 61) and NRAS (codons 12, 13, and 61) gene analysis utilizing formalin-fixed paraffin-embedded tissue 0113U

0113U Oncology (prostate), measurement of PCA3 and TMPRSS2-ERG in urine and PSA in serum following prostatic massage, by RNA amplification and fluorescence-based detection, algorithm reported as risk score 0114U Gastroenterology (Barrett’s esophagus), VIM and CCNA1 methylation analysis, esophageal cells, algorithm reported as likelihood for Barrett’s esophagus 0118U Transplantation medicine, quantification of donor-derived cell-free DNA using whole genome next-generation sequencing, plasma, reported as percentage of donor derived cell-free DNA in the total cell-free DNA 0120U Oncology (B-cell lymphoma classification), mRNA, gene expression profiling by fluorescent probe hybridization of 58 genes (45 content and 13 housekeeping genes), formalin-fixed paraffin-embedded tissue, algorithm reported as likelihood for primary mediastinal B-cell lymphoma (PMBCL) and diffuse large B-cell lymphoma (DLBCL) with cell of origin subtyping in the latter 0129U Hereditary breast cancer–related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis and deletion/duplication analysis panel (ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, and TP53) 0130U Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis), targeted mRNA sequence analysis panel (APC, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, and TP53) (List separately in addition to code for primary procedure) (Use 0130U in conjunction with 81435, 0101U) 0133U Hereditary prostate cancer–related disorders, targeted mRNA sequence analysis panel (11 genes) (List separately in addition to code for primary procedure) (Use 0133U in conjunction with 81162) 0134U Hereditary pan cancer (eg, hereditary breast and ovarian cancer, hereditary endometrial cancer, hereditary colorectal cancer), targeted mRNA sequence analysis panel (18 genes) (List separately in addition to code for primary procedure) (Use 0134U in conjunction with 81162, 81432, 81435) 0136U ATM (ataxia telangiectasia mutated) (eg, ataxia telangiectasia) mRNA sequence analysis (List separately in addition to code for primary procedure) (Use 0136U in conjunction with 81408)

17

0137U PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic cancer) mRNA sequence analysis (List separately in addition to code for primary procedure) (Use 0137U in conjunction with 81406) 0138U BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) mRNA sequence analysis (List separately in addition to code for primary procedure) (Use 0138U in conjunction with 81162) 0153U Oncology (breast), mRNA, gene expression profiling by next-generation sequencing of 101
genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a triple
negative breast cancer clinical subtype(s) with information on immune cell involvement 0154U FGFR3 (fibroblast growth factor receptor 3) gene analysis (ie, p.R248C [c.742C>T], p.S249C [c.746C>G], p.G370C [c.1108G>T], p.Y373C [c.1118A>G], FGFR3-TACC3v1, and FGFR3- TACC3v3) 0155U PIK3CA (phosphatidylinositol-4,5- bisphosphate 3-kinase, catalytic subunit alpha) (eg, breast cancer) gene analysis (ie, p.C420R, p.E542K, p.E545A, p.E545D [g.1635G>T only], p.E545G, p.E545K, p.Q546E, p.Q546R, p.H1047L, p.H1047R, p.H1047Y) 0156U Copy number (eg, intellectual disability, dysmorphology), sequence analysis 0157U APC (APC regulator of WNT signaling pathway) (eg, familial adenomatosis polyposis [FAP]) mRNA sequence analysis (List separately in addition to code for primary procedure) (Use
0157U in conjunction with 81201) 0158U MLH1 (mutL homolog 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) mRNA sequence analysis (List separately in addition to code for primary procedure)
(Use 0158U in conjunction with 81292) 0159U MSH2 (mutS homolog 2) (eg, hereditary colon cancer, Lynch syndrome) mRNA sequence
analysis (List separately in addition to code for primary procedure) (Use 0159U in conjunction with 81295) 0160U MSH6 (mutS homolog 6) (eg, hereditary colon cancer, Lynch syndrome) mRNA sequence
analysis (List separately in addition to code for primary procedure) (Use 0160U in conjunction with 81298) 0161U PMS2 (PMS1 homolog 2, mismatch repair system component) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) mRNA sequence analysis (List separately in addition to
code for primary procedure) (Use 0161U in conjunction with 81317) 0162U Hereditary colon cancer (Lynch syndrome), targeted mRNA sequence analysis panel (MLH1, MSH2, MSH6, PMS2) (List separately in addition to code for primary procedure) 0169U NUDT15 (nudix hydrolase 15) and TPMT (thiopurine S-methyltransferase) (eg, drug
metabolism) gene analysis, common variants 0170U Neurology (autism spectrum disorder [ASD]), RNA, next-generation sequencing, saliva, algorithmic analysis, and results reported as predictive probability of ASD diagnosis 0171U Targeted genomic sequence analysis panel, acute myeloid leukemia, myelodysplastic
syndrome, and myeloproliferative neoplasms, DNA analysis, 23 genes, interrogation for sequence variants, rearrangements and minimal residual disease, reported as presence/ absence 0172U Oncology (solid tumor as indicated by the label), somatic mutation analysis of BRCA1
(BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) and analysis of homologous recombination deficiency pathways, DNA, formalin-fixed paraffin-embedded
tissue, algorithm quantifying tumor genomic instability score 0173U Psychiatry (ie, depression, anxiety), genomic analysis panel, includes variant analysis of 14 genes 0175U Psychiatry (eg, depression, anxiety), genomic analysis panel, variant analysis of 15 genes 0177U Oncology (breast cancer), DNA, PIK3CA (phosphatidylinositol-4,5-bisphosphate 3- kinase catalytic subunit alpha) gene analysis of 11 gene variants utilizing plasma, reported as
PIK3CA gene mutation status 0179U Oncology (non-small cell lung cancer), cell-free DNA, targeted sequence analysis of 23 genes (single nucleotide variations, insertions and deletions, fusions without prior knowledge of partner/breakpoint, copy number variations), with report of significant mutation(s) 0203U Autoimmune (inflammatory bowel disease), mRNA, gene expression profiling by quantitative
RT-PCR, 17 genes (15 target and 2 reference genes), whole blood, reported as a
continuous risk score and classification of inflammatory

18

0204U Oncology (thyroid), mRNA, gene expression analysis of 593 genes (including BRAF, RAS, RET, PAX8, and NTRK) for sequence variants and rearrangements, utilizing fine needle aspirate, reported as detected or not detected 0205U Ophthalmology (age-related macular degeneration), analysis of 3 gene variants (2 CFH gene, 1 ARMS2 gene), using PCR and MALDI-TOF, buccal swab, reported as positive or negative for neovascular agerelated macular-degeneration risk associated with zinc supplements 0209U Cytogenomic constitutional (genome-wide) analysis, interrogation of genomic regions for copy number, structural changes and areas of homozygosity for chromosomal abnormalities 0211U Oncology (pan-tumor), DNA and RNA by next-generation sequencing, utilizing formalin-fixed paraffin-embedded tissue, interpretative report for single nucleotide variants, copy number alterations, tumor mutational burden, and microsatellite instability, with therapy association 0212U Rare diseases (constitutional/heritable disorders), whole genome and mitochondrial DNA sequence analysis, including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants, proband (Do not report 0212U in
conjunction with 81425) 0213U Rare diseases (constitutional/heritable disorders), whole genome and mitochondrial DNA sequence analysis, including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants, each comparator genome (eg, parent, sibling) (Do not report 0213U in conjunction with 81426) 0214U Rare diseases (constitutional/heritable disorders), whole exome and mitochondrial DNA sequence analysis, including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants, proband (Do not report 0214U in
conjunction with 81415) 0215U Rare diseases (constitutional/heritable disorders), whole exome and mitochondrial DNA sequence analysis, including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants, each comparator exome (eg, parent,
sibling) (Do not report 0215U in conjunction with 81416) 0216U Neurology (inherited ataxias), genomic DNA sequence analysis of 12 common genes
including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants 0217U Neurology (inherited ataxias), genomic DNA sequence analysis of 51 genes including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and
variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants 0218U Neurology (muscular dystrophy), DMD gene sequence analysis, including small sequence changes, deletions, duplications, and variants in non-uniquely mappable regions, blood or
saliva, identification and characterization of genetic variants 0228U Oncology (prostate), multianalyte molecular profile by photometric detection of
macromolecules adsorbed on nanosponge array slides with machine learning, utilizing first morning voided urine, algorithm reported as likelihood of prostate cancer 0229U BCAT1 (Branched chain amino acid transaminase 1) or IKZF1 (IKAROS family zinc finger 1) (eg, colorectal cancer) promoter methylation analysis 0230U AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation), full sequence analysis, including small sequence changes in
exonic and intronic regions, deletions, duplications, short tandem repeat (STR) expansions, mobile element insertions, and variants in non-uniquely mappable regions 0231U CACNA1A (calcium voltage-gated channel subunit alpha 1A) (eg, spinocerebellar ataxia), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) gene expansions, mobile element insertions, and variants in non-uniquely mappable regions

19

0232U CSTB (cystatin B) (eg, progressive myoclonic epilepsy type 1A, Unverricht-Lundborg disease), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) expansions, mobile element insertions, and variants
in non-uniquely mappable regions 0233U FXN (frataxin) (eg, Friedreich ataxia), gene analysis, including small sequence changes in
exonic and intronic regions, deletions, duplications, short tandem repeat (STR) expansions, mobile element insertions, and variants in non-uniquely mappable regions 0234U MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome), full gene analysis, including
small sequence changes in exonic and intronic regions, deletions, duplications, mobile
element insertions, and variants in non-uniquely mappable regions 0235U PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome), full gene analysis, including small sequence changes in exonic and intronic
regions, deletions, duplications, mobile element insertions, and variants in non-uniquely mappable regions 0236U SMN1 (survival of motor neuron 1, telomeric) and SMN2 (survival of motor neuron 2, centromeric) (eg, spinal muscular atrophy) full gene analysis, including small sequence
changes in exonic and intronic regions, duplications and deletions, and mobile element insertions 0237U Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia), genomic sequence analysis panel including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and
SCN5A, including small sequence changes in exonic and intronic regions, deletions,
duplications, mobile element insertions, and variants in non-uniquely mappable regions 0238U Oncology (Lynch syndrome), genomic DNA sequence analysis of MLH1, MSH2, MSH6,
PMS2, and EPCAM, including small sequence changes in exonic and intronic regions,
deletions, duplications, mobile element insertions, and variants in non-uniquely mappable
regions 0239U Targeted genomic sequence analysis panel, solid organ neoplasm, cell-free DNA, analysis of
311 or more genes, interrogation for sequence variants, including substitutions, insertions, deletions, select rearrangements, and copy number variations 0242U Targeted genomic sequence analysis panel, solid organ neoplasm, cell-free circulating DNA analysis of 55-74 genes, interrogation for sequence variants, gene copy number
amplifications, and gene rearrangements 0244U Oncotype MAP PanCancer Tissue Test (Oncology (solid organ), DNA, comprehensive
genomic profiling, 257 genes, interrogation for single-nucleotide variants, insertions/deletions, copy number alterations, gene rearrangements, tumor-mutational burden and microsatellite
instability, utilizing formalin-fixed paraffin embedded tumor tissue) 0245U Oncology (thyroid), mutation analysis of 10 genes and 37 RNA fusions and expression of 4 mRNA markers using next-generation sequencing, fine needle aspirate, report includes associated risk of malignancy expressed as a percentage 0250U Oncology (solid organ neoplasm), targeted genomic sequence DNA analysis of 505 genes, interrogation for somatic alterations (SNVs [single nucleotide variant], small insertions and deletions, one amplification, and four translocations), microsatellite instability and
tumor-mutation burden 0252U Fetal aneuploidy short tandem–repeat comparative analysis, fetal DNA from products of conception, reported as normal (euploidy), monosomy, trisomy, or partial deletion/duplications, mosaicism, and segmental aneuploidy 0253U Reproductive medicine (endometrial receptivity analysis), RNA gene expression profile, 238 genes by next-generation sequencing, endometrial tissue, predictive algorithm reported as endometrial window of implantation (eg, pre-receptive, receptive, post-receptive) 0254U Reproductive medicine (preimplantation genetic assessment), analysis of 24 chromosomes
using embryonic DNA genomic sequence analysis for aneuploidy, and a mitochondrial DNA score in euploid embryos, results reported as normal (euploidy), monosomy, trisomy, or partial deletion/duplications, mosaicism, and segmental aneuploidy, per embryo tested 0258U Autoimmune (psoriasis), mRNA, next generation sequencing, gene expression profiling of
50-100 genes, skin-surface collection using adhesive patch, algorithm reported as likelihood
of response to psoriasis biologics

20

0260U Rare diseases (constitutional/heritable disorders), identification of copy number variations, inversions, insertions, translocations, and other structural variants by optical genome
mapping 0262U Oncology (solid tumor), gene expression profiling by real-time RT-PCR of 7 gene pathways
(ER, AR, PI3K, MAPK, HH, TGFB, Notch), formalin-fixed paraffin embedded (FFPE),
algorithm reported as gene pathway activity score

0264U Rare diseases (constitutional/heritable disorders), identification of copy number variations, inversions, insertions, translocations, and other structural variants by optical genome
mapping 0265U Rare constitutional and other heritable disorders, whole genome and mitochondrial DNA sequence analysis, blood, frozen and formalin-fixed paraffin embedded (FFPE) tissue, saliva, buccal swabs or cell lines, identification of single nucleotide and copy number variants 0266U Unexplained constitutional or other heritable disorders or syndromes, tissue specific gene expression by whole transcriptome and next-generation sequencing, blood, formalin-fixed
paraffin embedded (FFPE) tissue or fresh frozen tissue, reported as presence or absence of splicing or expression changes 0267U Rare constitutional and other heritable disorders, identification of copy number variations, inversions, insertions, translocations, and other structural variants by optical genome mapping and whole genome sequencing 0268U Hematology (atypical hemolytic uremic syndrome [aHUS]), genomic sequence analysis of 15 genes, blood, buccal swab, or amniotic fluid 0269U Hematology (autosomal dominant congenital thrombocytopenia), genomic sequence analysis
of 14 genes, blood, buccal swab, or amniotic fluid 0270U Hematology (congenital coagulation disorders), genomic sequence analysis of 20 genes,
blood, buccal swab, or amniotic fluid 0271U Hematology (congenital neutropenia), genomic sequence analysis of 23 genes, blood, buccal swab, or amniotic fluid 0272U Hematology (genetic bleeding disorders), genomic sequence analysis of 51 genes, blood,
buccal swab, or amniotic fluid, comprehensive 0273U Hematology (genetic hyperfibrinolysis, delayed bleeding), genomic sequence analysis of 8
genes (F13A1, F13B, FGA, FGB, FGG, SERPINA1, SERPINE1, SERPINF2, PLAU), blood, buccal swab, or amniotic fluid 0274U Hematology (genetic platelet disorders), genomic sequence analysis of 43 genes, blood,
buccal swab, or amniotic fluid 0276U Hematology (inherited thrombocytopenia), genomic sequence analysis of 23 genes, blood,
buccal swab, or amniotic fluid 0277U Hematology (genetic platelet function disorder), genomic sequence analysis of 31 genes,
blood, buccal swab, or amniotic fluid 0278U Hematology (genetic thrombosis), genomic sequence analysis of 12 genes, blood, buccal
swab, or amniotic fluid 0285U Oncology, disease progression and response monitoring to radiation, chemotherapy, or other systematic cancer treatments, cell-free DNA, quantitative branched chain DNA
amplification, plasma, reported in ng/mL - RadTox™ cfDNA test 0286U CEP72 (centrosomal protein, 72-KDa), NUDT15 (nudix hydrolase 15) and TPMT (thiopurine
S-methyltransferase) (eg, drug metabolism) gene analysis, common variants - CNT (CEP72, NUDT15 and TPMT) Genotyping Panel 0287U Oncology (thyroid), DNA and mRNA, nextgeneration sequencing analysis of 112 genes, fine needle aspirate or formalinfixed paraffin-embedded (FFPE) tissue, algorithmic prediction of cancer recurrence, reported as a categorical risk result (low, intermediate, high) - ThyroSeq® CRC 0288U Oncology (lung), mRNA, quantitative PCR analysis of 11 genes (BAG1, BRCA1, CDC6, CDK2AP1, ERBB3, FUT3, IL11, LCK, RND3, SH3BGR, WNT3A) and 3 reference genes (ESD, TBP, YAP1), formalin-fixed paraffin-embedded (FFPE) tumor tissue, algorithmic interpretation reported as a recurrence risk score - DetermaRx™ 0289U Neurology (Alzheimer disease), mRNA, gene expression profiling by RNA sequencing of 24 genes, whole blood, algorithm reported as predictive risk score - MindX Blood Test™ - Memory/Alzheimer's

21

0290U Pain management, mRNA, gene expression profiling by RNA sequencing of 36 genes, whole blood, algorithm reported as predictive risk score - MindX Blood Test™ - Pain 0291U Psychiatry (mood disorders), mRNA, gene expression profiling by RNA sequencing of 144
genes, whole blood, algorithm reported as predictive risk score - MindX Blood Test™ - Mood 0292U Psychiatry (stress disorders), mRNA, gene expression profiling by RNA sequencing of 72
genes, whole blood, algorithm reported as predictive risk score - MindX Blood Test™ -
Stress 0293U Psychiatry (suicidal ideation), mRNA, gene expression profiling by RNA sequencing of 54
genes, whole blood, algorithm reported as predictive risk score - MindX Blood Test™ -
Suicidality 0294U Longevity and mortality risk, mRNA, gene expression profiling by RNA sequencing of 18
genes, whole blood, algorithm reported as predictive risk score - MindX Blood Test™ -
Longevity 0296U Oncology (oral and/or oropharyngeal cancer), gene expression profiling by RNA sequencing
at least 20 molecular features (eg, human and/or microbial mRNA), saliva, algorithm reported
as positive or negative for signature associated with malignancy - mRNA CancerDetect™ 0297U Oncology (pan tumor), whole genome sequencing of paired malignant and normal DNA specimens, fresh or formalin fixed paraffin-embedded (FFPE) tissue, blood or bone marrow, comparative sequence analyses and variant identification - Praxis Somatic Whole Genome Sequencing 0298U Oncology (pan tumor), whole transcriptome sequencing of paired malignant and normal RNA specimens, fresh or formalin-fixed paraffin-embedded (FFPE) tissue, blood or bone marrow, comparative sequence analyses and expression level and chimeric transcript identification - Praxis Somatic Transcriptome 0299U Oncology (pan tumor), whole genome optical genome mapping of paired malignant and
normal DNA specimens, fresh frozen tissue, blood, or bone marrow, comparative structural variant identification - Praxis Somatic Optical Genome Mapping 0300U Oncology (pan tumor), whole genome sequencing and optical genome mapping of paired malignant and normal DNA specimens, fresh tissue, blood, or bone marrow, comparative sequence analyses and variant identification - Praxis Somatic Combined Whole Genome Sequencing and Optical Genome Mapping 0306U Oncology (minimal residual disease [MRD]), next-generation targeted sequencing analysis,
cell-free DNA, initial (baseline) assessment to determine a patient specific panel for future comparisons to evaluate for MRD (Do not report 0306U in conjunction with 0307U) 0307U Oncology (minimal residual disease [MRD]), next-generation targeted sequencing analysis of
a patient-specific panel, cell-free DNA, subsequent assessment with comparison to previously analyzed patient specimens to evaluate for MRD (Do not report 0307U in conjunction with
0306U 0313U Oncology (pancreas), DNA and mRNA next-generation sequencing analysis of 74 genes and analysis of CEA (CEACAM5) gene expression, pancreatic cyst fluid, algorithm reported as a categorical result (ie, negative, low probability of neoplasia or positive, high probability of neoplasia) 0314U Oncology (cutaneous melanoma), mRNA gene expression profiling by RT-PCR of 35
genes (32 content and 3 housekeeping), utilizing formalin-fixed paraffin-embedded (FFPE)
tissue, algorithm reported as a categorical result (ie, benign, intermediate, malignant) 0315U Oncology (cutaneous squamous cell carcinoma), mRNA gene expression profiling by RT-PCR 40 genes (34 content and 6 housekeeping), utilizing formalin-fixed paraffin embedded tissue, algorithm reported as a categorical risk result (ie, Class 1, Class 2A, Class 2B) 0317U Oncology (lung cancer), four-probe FISH (3q29, 3p22.1, 10q22.3, 10cen) assay, whole blood, predictive algorithm generated evaluation reported as decreased or increased risk for lung
cancer 0318U Pediatrics (congenital epigenetic disorders), whole genome methylation analysis by
microarray for 50 or more genes, blood 0319U Nephrology (renal transplant), RNA expression by select transcriptome sequencing, using pretransplant peripheral blood, algorithm reported as a risk score for early acute rejection 0320U Nephrology (renal transplant), RNA expression by select transcriptome sequencing, using posttransplant peripheral blood, algorithm reported as a risk score for acute cellular rejection

22

0326U Targeted genomic sequence analysis panel, solid organ neoplasm, cell-free circulating DNA analysis of 83 or more genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, microsatellite instability and tumor mutational burden 0327U
Fetal aneuploidy (trisomy 13, 18, and 21), DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy, includes sex reporting, if performed 0329U Oncology (neoplasia), exome and transcriptome sequence analysis for sequence variants,
gene copy number amplifications and deletions, gene rearrangements, microsatellite
instability and tumor mutational burden utilizing DNA and RNA from tumor with DNA from
normal blood or saliva for subtraction, report of clinically significant mutation(s) with therapy associations 0331U
Oncology (hematolymphoid neoplasia), optical genome mapping for copy number alterations
and gene rearrangements utilizing DNA from blood or bone marrow, report of clinically
significant alternations 0332U Oncology (pan-tumor), genetic profiling of 8 DNA-regulatory (epigenetic) markers by quantitative polymerase chain reaction (qPCR), whole blood, reported as a high or low probability of responding to immune checkpoint–inhibitor therapy 0333U Oncology (liver), surveillance for hepatocellular carcinoma (HCC) in high risk patients, analysis methylation patterns on circulating cell-free DNA (cfDNA) plus measurement of serum of AFP/AFP-L3 and oncoprotein des-gammacarboxy-prothrombin (DCP), algorithm reported as normal or abnormal result 0334U Oncology (solid organ), targeted genomic sequence analysis, formalin-fixed
paraffin embedded (FFPE) tumor tissue, DNA analysis, 84 or more genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, microsatellite instability and tumor mutational burden 0335U Rare diseases (constitutional/heritable disorders), whole genome sequence analysis,
including small sequence changes, copy number variants, deletions, duplications, mobile
element insertions, uniparental disomy (UPD), inversions, aneuploidy, mitochondrial genome sequence analysis with heteroplasmy and large deletions, short tandem repeat (STR) gene expansions, fetal sample, identification and categorization of genetic variants (Do not report 0335U in conjunction with 81425, 0212U) 0336U Rare diseases (constitutional/heritable disorders), whole genome sequence analysis,
including small sequence changes, copy number variants, deletions, duplications, mobile
element insertions, uniparental disomy (UPD), inversions, aneuploidy, mitochondrial genome sequence analysis with heteroplasmy and large deletions, short tandem repeat (STR) gene expansions, blood or saliva, identification and categorization of genetic variants, each
comparator genome (eg, parent) (Do not report 0336U in conjunction with 81426, 0213U) 0339U Oncology (prostate), mRNA expression profiling of HOXC6 and DLX1, reverse transcription polymerase chain reaction (RT-PCR), first-void urine following digital rectal examination, algorithm reported as probability of high-grade cancer 0340U Oncology (pan-cancer), analysis of minimal residual disease (MRD) from plasma, with assays personalized to each patient based on prior next-generation sequencing of the patient’s tumor and germline DNA, reported as absence or presence of MRD, with disease-burden
correlation, if appropriate 0341U Fetal aneuploidy DNA sequencing comparative analysis, fetal DNA from products of
conception, reported as normal (euploidy), monosomy, trisomy, or partial deletion/duplication, mosaicism, and segmental aneuploidy 0343U Oncology (prostate), exosome-based analysis of 442 small noncoding RNAs (sncRNAs) by quantitative reverse transcription polymerase chain reaction (RT-qPCR), urine, reported as molecular evidence of no-, low-, intermediate- or high-risk of prostate cancer 0345U Psychiatry (eg, depression, anxiety, attention deficit hyperactivity disorder [ADHD]), genomic analysis panel, variant analysis of 15 genes, including deletion/duplication analysis of
CYP2D6 0347U Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 16 gene report, with variant analysis and reported phenotypes 0348U Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 25 gene report, with variant analysis and reported phenotypes

23

0349U Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 27 gene report, with variant analysis, including reported phenotypes and impacted gene-drug interactions 0350U Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 27 gene report, with variant analysis and reported phenotypes 0355U APOL1 (apolipoprotein L1) (eg, chronic kidney disease), risk variants (G1, G2) 0356U Oncology (oropharyngeal), evaluation of 17 DNA biomarkers using droplet digital PCR
(ddPCR), cell-free DNA, algorithm reported as a prognostic risk score for cancer recurrence 0362U Oncology (papillary thyroid cancer), gene-expression profiling via targeted hybrid capture– enrichment RNA sequencing of 82 content genes and 10 housekeeping genes, formalin-fixed paraffin embedded (FFPE) tissue, algorithm reported as one of three molecular subtypes 0363U Oncology (urothelial), mRNA, gene expression profiling by real-time quantitative PCR of 5
genes (MDK, HOXA13, CDC2 [CDK1], IGFBP5, and CXCR2), utilizing urine, algorithm incorporates age, sex, smoking history, and macrohematuria frequency, reported as a risk
score for having urothelial carcinoma 0364U Oncology (hematolymphoid neoplasm), genomic sequence analysis using multiplex (PCR)
and next-generation sequencing with algorithm, quantification of dominant clonal sequence(s), reported as presence or absence of minimal residual disease (MRD) with quantitation of
disease burden, when appropriate 0368U Oncology (colorectal cancer), evaluation for mutations of APC, BRAF, CTNNB1, KRAS,
NRAS, PIK3CA, SMAD4, and TP53, and methylation markers (MYO1G, KCNQ5, C9ORF50, FLI1, CLIP4, ZNF132 and TWIST1), multiplex quantitative polymerase chain reaction (qPCR), circulating cell-free DNA (cfDNA), plasma, report of risk score for advanced adenoma or colorectal cancer 0378U RFC1 (replication factor C subunit 1), repeat expansion variant analysis by traditional and
repeat-primed PCR, blood, saliva, or buccal swab 0379U Targeted genomic sequence analysis panel, solid organ neoplasm, DNA (523 genes) and
RNA (55 genes) by next-generation sequencing, interrogation for sequence variants, gene
copy number amplifications, gene rearrangements, microsatellite instability, and tumor
mutational burden 0388U Oncology (non-small cell lung cancer), next-generation sequencing with identification of single nucleotide variants, copy number variants, insertions and deletions, and structural variants in 37 cancer-related genes, plasma, with report for alteration detection 0389U Pediatric febrile illness (Kawasaki disease [KD]), interferon alphainducible protein 27 (IFI27)
and mast cell-expressed membrane protein 1 (MCEMP1), RNA, using reverse transcription polymerase chain reaction (RT-qPCR), blood, reported as a risk score for KD 0392U Drug metabolism (depression, anxiety, attention deficit hyperactivity disorder [ADHD]), gene- drug interactions, variant analysis of 16 genes, including deletion/duplication analysis of
CYP2D6, reported as impact of gene-drug interaction for each drug 0391U Oncology (solid tumor), DNA and RNA by next-generation sequencing, utilizing formalin-fixed paraffin-embedded (FFPE) tissue, 437 genes, interpretive report for single nucleotide variants, splicesite variants, insertions/deletions, copy number alterations, gene fusions, tumor
mutational burden, and microsatellite instability, with algorithm quantifying immunotherapy response score 0400U Obstetrics (expanded carrier screening), 145 genes by next generation sequencing, fragment analysis and multiplex ligation dependent probe amplification, DNA, reported as carrier
positive or negative 0401U Cardiology (coronary heart disease [CAD]), 9 genes (12 variants), targeted variant genotyping, blood, saliva, or buccal swab, algorithm reported as a genetic risk score for a coronary event 0403U
Oncology (prostate), mRNA, gene expression profiling of 18 genes, first-catch urine, algorithm reported as percentage of likelihood of detecting clinically significant prostate cancer 0405U
Oncology (pancreatic), 59 methylation haplotype block markers, next-generation sequencing, plasma, reported as cancer signal detected or not detected 0409U
Oncology (solid tumor), DNA (80 genes) and RNA (36 genes), by next-generation sequencing from plasma, including single nucleotide variants, insertions/deletions, copy number
alterations, microsatellite instability, and fusions, report showing identified mutations with
clinical actionability

24

0410U
Oncology (pancreatic), DNA, whole genome sequencing with 5-hydroxymethylcytosine enrichment, whole blood or plasma, algorithm reported as cancer detected or not detected 0411U
Psychiatry (eg, depression, anxiety, attention deficit hyperactivity disorder [ADHD]), genomic analysis panel, variant analysis of 15 genes, including deletion/duplication analysis of
CYP2D6
0413U
Oncology (hematolymphoid neoplasm), optical genome mapping for copy number alterations, aneuploidy, and balanced/complex structural rearrangements, DNA from blood or bone
marrow, report of clinically significant alterations 0414U
Oncology (lung), augmentative algorithmic analysis of digitized whole slide imaging for 8
genes (ALK, BRAF, EGFR, ERBB2, MET, NTRK1-3, RET, ROS1), and KRAS G12C and
PD-L1, if performed, formalin-fixed paraffinembedded (FFPE) tissue, reported as positive or negative for each biomarker 0417U
"Rare diseases (constitutional/heritable disorders), whole mitochondrial genome sequence
with heteroplasmy detection and deletion analysis, nuclearencoded mitochondrial gene
analysis of 335 nuclear genes, including sequence changes, deletions, insertions, and copy number variants analysis, blood or saliva, identification and categorization of mitochondrial
disorder–associated genetic variants" 0419U
Neuropsychiatry (eg, depression, anxiety), genomic sequence analysis panel, variant analysis o 13 genes, saliva or buccal swab, report of each gene phenotype 0420U Oncology (urothelial), mRNA expression profiling by real-time quantitative PCR of MDK, HOXA13, CDC2, IGFBP5, and CXCR2 in combination with droplet digital PCR (ddPCR)
analysis of 6 single-nucleotide polymorphisms (SNPs) genes TERT and FGFR3, urine,
algorithm reported as a risk score for urothelial carcinoma 0422U Oncology (pan-solid tumor), analysis of DNA biomarker response to anti-cancer therapy using cell-free circulating DNA, biomarker comparison to a previous baseline pre-treatment cell-free circulating DNA analysis using next-generation sequencing, algorithm reported as a
quantitative change from baseline, including specific alterations, if appropriate 0423U Psychiatry (eg, depression, anxiety), genomic analysis panel, including variant analysis of 26 genes, buccal swab, report including metabolizer status and risk of drug toxicity by condition 0424U Oncology (prostate), exosome-based analysis of 53 small noncoding RNAs (sncRNAs) by quantitative reverse transcription polymerase chain reaction (RT-qPCR), urine, reported as no molecular evidence, low-, moderate- or elevated-risk of prostate cancer 0425U Genome (eg, unexplained constitutional or heritable disorder or syndrome), rapid sequence analysis, each comparator genome (eg, parents, siblings) 0426U Genome (eg, unexplained constitutional or heritable disorder or syndrome), ultra-rapid
sequence analysis 0433U Oncology (prostate), 5 DNA regulatory markers by quantitative PCR, whole blood, algorithm, including prostate-specific antigen, reported as likelihood of cancer 0434U Drug metabolism (adverse drug reactions and drug response), genomic analysis panel,
variant analysis of 25 genes with reported phenotypes 0437U Psychiatry (anxiety disorders), mRNA, gene expression profiling by RNA sequencing of 15 biomarkers, whole blood, algorithm reported as predictive risk score 0438U Drug metabolism (adverse drug reactions and drug response), buccal specimen, gene-drug interactions, variant analysis of 33 genes, including deletion/duplication analysis of CYP2D6, including reported phenotypes and impacted gene-drug interactions 0439U Cardiology (coronary heart disease [CHD]), DNA, analysis of 5 single-nucleotide
polymorphisms (SNPs) (rs11716050 [LOC105376934], rs6560711 [WDR37], rs3735222 [SCIN/LOC107986769], rs6820447 [intergenic], and rs9638144 [ESYT2]) and 3 DNA
methylation markers (cg00300879 [transcription start site {TSS200} of CNKSR1], cg09552548 [intergenic], and cg14789911 [body of SPATC1L]), qPCR and digital PCR, whole blood,
algorithm reported as a 4-tiered risk score for a 3-year risk of symptomatic CHD 0440U Cardiology (coronary heart disease [CHD]), DNA, analysis of 10 single-nucleotide
polymorphisms (SNPs) (rs710987 [LINC010019], rs1333048 [CDKN2B-AS1], rs12129789 [KCND3], rs942317 [KTN1-AS1], rs1441433 [PPP3CA], rs2869675 [PREX1], rs4639796 [ZBTB41], rs4376434 [LINC00972], rs12714414 [TMEM18], and rs7585056 [TMEM18]) and 6 DNA methylation markers (cg03725309 [SARS1], cg12586707 [CXCL1, cg04988978 [MPO], cg17901584 [DHCR24-DT], cg21161138 [AHRR], and cg12655112 [EHD4]), qPCR and

25

digital PCR, whole blood, algorithm reported as detected or not detected for CHD 0444U Oncology (solid organ neoplasia), targeted genomic sequence analysis panel of 361 genes, interrogation for gene fusions, translocations, or other rearrangements, using DNA from
formalin-fixed paraffin-embedded (FFPE) tumor tissue, report of clinically significant variant(s) 0449U Carrier screening for severe inherited conditions (eg, cystic fibrosis, spinal muscular
atrophy, beta hemoglobinopathies [including sickle cell disease], alpha thalassemia),
regardless of race or self-identified ancestry, genomic sequence analysis panel, must include analysis of 5 genes (CFTR, SMN1, HBB, HBA1, HBA2) 0452U Oncology (bladder), methylated PENK DNA detection by linear target enrichment-quantitative methylation-specific real-time PCR (LTE-qMSP), urine, reported as likelihood of bladder
cancer 0453U Oncology (colorectal cancer), cell-free DNA (cfDNA), methylation-based quantitative PCR
assay (SEPTIN9, IKZF1, BCAT1, Septin9-2, VAV3, BCAN), plasma, reported as presence or absence of circulating tumor DNA (ctDNA) 0454U Rare diseases (constitutional/heritable disorders), identification of copy number variations, inversions, insertions, translocations, and other structural variants by optical genome mapping 0460U Oncology, whole blood or buccal, DNA single-nucleotide polymorphism (SNP) genotyping by real-time PCR of 24 genes, with variant analysis and reported phenotypes 0461U Oncology, pharmacogenomic analysis of single-nucleotide polymorphism (SNP) genotyping
by real-time PCR of 24 genes, whole blood or buccal swab, with variant analysis, including impacted gene-drug interactions and reported phenotypes 0465U Oncology (urothelial carcinoma), DNA, quantitative methylation-specific PCR of 2 genes (ONECUT2, VIM), algorithmic analysis reported as positive or negative 0466U Cardiology (coronary artery disease [CAD]), DNA, genome-wide association studies (564856 single-nucleotide polymorphisms [SNPs], targeted variant genotyping), patient lifestyle and clinical data, buccal swab, algorithm reported as polygenic risk to acquired heart disease 0467U Oncology (bladder), DNA, next-generation sequencing (NGS) of 60 genes and whole genome aneuploidy, urine, algorithms reported as minimal residual disease (MRD) status
positive or negative and quantitative disease burden 0469U Rare diseases (constitutional/heritable disorders), whole genome sequence analysis for chromosomal abnormalities, copy number variants, duplications/deletions, inversions, unbalanced translocations, regions of homozygosity (ROH), inheritance pattern that indicate uniparental disomy (UPD), and aneuploidy, fetal sample (amniotic fluid, chorionic villus
sample, or products of conception), identification and categorization of genetic variants, diagnostic report of fetal results based on phenotype with maternal sample and paternal
sample, if performed, as comparators and/or maternal cell contamination 0471U Oncology (colorectal cancer), qualitative real-time PCR of 35 variants of KRAS and NRAS
genes (exons 2, 3, 4), formalin-fixed paraffin-embedded (FFPE), predictive, identification of detected mutations 0473U Oncology (solid tumor), next-generation sequencing (NGS) of DNA from formalin-fixed
paraffin-embedded (FFPE) tissue with comparative sequence analysis from a matched normal specimen (blood or saliva), 648 genes, interrogation for sequence variants, insertion and
deletion alterations, copy number variants, rearrangements, microsatellite instability, and
tumor-mutation burden 0474U Hereditary pan-cancer (eg, hereditary sarcomas, hereditary endocrine tumors, hereditary neuroendocrine tumors, hereditary cutaneous melanoma), genomic sequence analysis panel
of 88 genes with 20 duplications/deletions using next-generation sequencing (NGS), Sanger sequencing, blood or saliva, reported as positive or negative for germline variants, each gene 0475U Hereditary prostate cancer-related disorders, genomic sequence analysis panel using next- generation sequencing (NGS), Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridization (CGH), evaluation of 23 genes and duplications/deletions when indicated, pathologic mutations reported with a genetic risk score for prostate cancer 0476U Drug metabolism, psychiatry (eg, major depressive disorder, general anxiety disorder, attention deficit hyperactivity disorder [ADHD], schizophrenia), whole blood, buccal swab, and pharmacogenomic genotyping of 14 genes and CYP2D6 copy number variant analysis and reported phenotypes

26

0477U Drug metabolism, psychiatry (eg, major depressive disorder, general anxiety disorder, attention deficit hyperactivity disorder [ADHD], schizophrenia), whole blood, buccal swab, and pharmacogenomic genotyping of 14 genes and CYP2D6 copy number variant analysis, includin impacted gene-drug interactions and reported phenotypes 0478U Oncology (non-small cell lung cancer), DNA and RNA, digital PCR analysis of 9 genes (EGFR, KRAS, BRAF, ALK, ROS1, RET, NTRK 1/2/3, ERBB2, and MET) in formalin-fixed paraffin- embedded (FFPE) tissue, interrogation for single-nucleotide variants, insertions/deletions, gene rearrangements, and reported as actionable detected variants for therapy selection 0481U IDH1 (isocitrate dehydrogenase 1 [NADP+]), IDH2 (isocitrate dehydrogenase 2 [NADP+]), and TERT (telomerase reverse transcriptase) promoter (eg, central nervous system [CNS] tumors), next-generation sequencing (single-nucleotide variants [SNV], deletions, and insertions) 0485U Oncology (solid tumor), cell-free DNA and RNA by next-generation sequencing, interpretative report for germline mutations, clonal hematopoiesis of indeterminate potential, and tumor-derive single-nucleotide variants, small insertions/deletions, copy number alterations, fusions, microsatellite instability, and tumor mutational burden 0486U Oncology (pan-solid tumor), next-generation sequencing analysis of tumor methylation markers present in cell-free circulating tumor DNA, algorithm reported as quantitative measurement of methylation as a correlate of tumor fraction 0487U Oncology (solid tumor), cell-free circulating DNA, targeted genomic sequence analysis panel of 84 genes, interrogation for sequence variants, aneuploidy-corrected gene copy number amplifications and losses, gene rearrangements, and microsatellite instability 0488U Obstetrics (fetal antigen noninvasive prenatal test), cell-free DNA sequence analysis for detecti of fetal presence or absence of 1 or more of the Rh, C, c, D, E, Duffy (Fya), or Kell (K) antigen i alloimmunized pregnancies, reported as selected antigen(s) detected or not detected 0489U Obstetrics (single-gene noninvasive prenatal test), cell-free DNA sequence analysis of 1 or mor targets (eg, CFTR, SMN1, HBB, HBA1, HBA2) to identify paternally inherited pathogenic varian and relative mutation-dosage analysis based on molecular counts to determine fetal inheritance of maternal mutation, algorithm reported as a fetal risk score for the condition (eg, cystic fibrosis spinal muscular atrophy, beta hemoglobinopathies [including sickle cell disease], alpha thalassemia) 0493U Transplantation medicine, quantification of donor-derived cell-free DNA (cfDNA) using next- generation sequencing, plasma, reported as percentage of donor-derived cell-free DNA 0494U Red blood cell antigen (fetal RhD gene analysis), next-generation sequencing of circulating cell free DNA (cfDNA) of blood in pregnant individuals known to be RhD negative, reported as positive or negative 0496U Oncology (colorectal), cell-free DNA, 8 genes for mutations, 7 genes for methylation by real-tim RT-PCR, and 4 proteins by enzyme-linked immunosorbent assay, blood, reported positive or negative for colorectal cancer or advanced adenoma risk 0497U Oncology (prostate), mRNA gene-expression profiling by real-time RT-PCR of 6 genes (FOXM1 MCM3, MTUS1, TTC21B, ALAS1, and PPP2CA), utilizing formalin-fixed paraffin-embedded (FFPE) tissue, algorithm reported as a risk score for prostate cancer 0498U Oncology (colorectal), next-generation sequencing for mutation detection in 43 genes and methylation pattern in 45 genes, blood, and formalin-fixed paraffin-embedded (FFPE) tissue, report of variants and methylation pattern with interpretation 0499U Oncology (colorectal and lung), DNA from formalin-fixed paraffin-embedded (FFPE) tissue, nex generation sequencing of 8 genes (NRAS, EGFR, CTNNB1, PIK3CA, APC, BRAF, KRAS, and TP53), mutation detection 0500U Autoinflammatory disease (VEXAS syndrome), DNA, UBA1 gene mutations, targeted variant analysis (M41T, M41V, M41L, c.118-2A>C, c.118-1G>C, c.118-9_118-2del, S56F, S621C) 0506U Gastroenterology (Barrett’s esophagus), esophageal cells, DNA methylation analysis by next- generation sequencing of at least 89 differentially methylated genomic regions, algorithm reported as likelihood for Barrett’s esophagus 0507U Oncology (ovarian), DNA, whole-genome sequencing with 5-hydroxymethylcytosine (5hmC) enrichment, using whole blood or plasma, algorithm reported as cancer detected or not detecte 0516U Drug metabolism, whole blood, pharmacogenomic genotyping of 40 genes and CYP2D6 copy number variant analysis, reported as metabolizer status

27

0523U Oncology (solid tumor), DNA, qualitative, next-generation sequencing (NGS) of singlenucleotide variants (SNV) and insertion/deletions in 22 genes utilizing formalin-fixed paraffinembedded tissue, reported as presence or absence of mutation(s), location of mutation(s), nucleotide change, and amino acid change 0529U Hematology (venous thromboembolism [VTE]), genome-wide single-nucleotide
polymorphism variants, including F2 and F5 gene analysis, and Leiden variant, by microarray analysis, saliva, report as risk score for VTE 0530U Oncology (pan-solid tumor), ctDNA, utilizing plasma, nextgeneration sequencing (NGS) of 77 genes, 8 fusions, microsatellite instability, and tumor mutation burden, interpretative report for single-nucleotide variants, copynumber alterations, with therapy
association 0532U Rare diseases (constitutional disease/hereditary disorders), rapid whole genome and mitochondrial DNA sequencing for single-nucleotide variants, insertions/deletions, copy number variations, peripheral blood, buffy coat, saliva, buccal or tissue sample, results reported as positive or negative 0533U Drug metabolism (adverse drug reactions and drug response), genotyping of 16 genes (ie, ABCG2, CYP2B6, CYP2C9, CYP2C19, CYP2C, CYP2D6, CYP3A5, CYP4F2, DPYD, G6PD, GGCX, NUDT15, SLCO1B1, TPMT, UGT1A1, VKORC1), reported as metabolizer status and transporter function 0534U Oncology (prostate), microRNA, single-nucleotide polymorphisms (SNPs) analysis by RT- PCR of 32 variants, using buccal swab, algorithm reported as a risk score 0536U Red blood cell antigen (fetal RhD), PCR analysis of exon 4 of RHD gene and housekeeping control gene GAPDH from whole blood in pregnant individuals at 10+ weeks gestation known to be RhD negative, reported as fetal RhD status 0537U Oncology (colorectal cancer), analysis of cell-free DNA for epigenomic patterns, next- generation sequencing, >2500 differentially methylated regions (DMRs), plasma, algorithm reported as positive or negative 0538U Oncology (solid tumor), next-generation targeted sequencing analysis, formalin-fixed paraffin- embedded (FFPE) tumor tissue, DNA analysis of 600 genes, interrogation for single- nucleotide variants, insertions/deletions, gene rearrangements, and copy number alterations, microsatellite instability, tumor mutation burden, reported as actionable variant 0539U Oncology (solid tumor), cell-free circulating tumor DNA (ctDNA), 152 genes, next-generation sequencing, interrogation for single-nucleotide variants, insertions/deletions, gene rearrangements, copy number alterations, and microsatellite instability, using whole-blood samples, mutations with clinical actionability reported as actionable variant 0540U Transplantation medicine, quantification of donor-derived cell-free DNA using next-generation sequencing analysis of plasma, reported aspercentage of donor-derived cell-free DNA to determine probability of rejection 0543U Oncology (solid tumor), next-generation sequencing of DNA from formalin-fixed paraffin- embedded (FFPE) tissue of 517 genes, interrogation for single- nucleotide variants, multi- nucleotide variants, insertions and deletions from DNA, fusions in 24 genes and splice variants in 1 gene from RNA, and tumor mutation burden 0549U Oncology (urothelial), DNA, quantitative methylated real-time PCR of TRNA-Cys, SIM2, and NKX1-1, using urine, diagnostic algorithm reported as a probability index for bladder cancer and/or upper tract urothelial carcinoma (UTUC) 0552U Reproductive medicine (preimplantation genetic assessment), analysis for known genetic disorders from trophectoderm biopsy, linkage analysis of disease-causing locus, and when possible, targeted mutation analysis for known familial variant, reported as low-risk or high- risk for familial genetic disorder 0553U Reproductive medicine (preimplantation genetic assessment), analysis of 24 chromosomes using DNA genomic sequence analysis from embryonic trophectoderm for structural rearrangements, aneuploidy, and a mitochondrial DNA score, results reported as normal/balanced (euploidy/balanced), unbalanced structural rearrangement, monosomy, trisomy, segmental aneuploidy, or mosaic, per embryo tested 0554U Reproductive medicine (preimplantation genetic assessment), analysis of 24 chromosomes using DNA genomic sequence analysis from trophectoderm biopsy for aneuploidy, ploidy, a mitochondrial DNA score, and embryo quality control, results reported as normal (euploidy),

28

monosomy, trisomy, segmental aneuploidy, triploid, haploid, or mosaic, with quality control results reported as contamination detected or inconsistent cohort when applicable, per embryo tested 0555U Reproductive medicine (preimplantation genetic assessment), analysis of 24 chromosomes using DNA genomic sequence analysis from embryonic trophectoderm for structural rearrangements, aneuploidy, ploidy, a mitochondrial DNA score, and embryo quality control, results reported as normal/balanced (euploidy/balanced), unbalanced structural rearrangement, monosomy, trisomy, segmental aneuploidy, triploid, haploid, or mosaic, with quality control results reported as contamination detected or inconsistent cohort when applicable, per embryo tested 0560U Oncology (minimal residual disease [MRD]), genomic sequence analysis, cell-free DNA, whole blood and tumor tissue, baseline assessment for design and construction of a personalized variant panel to evaluate current MRD and for comparisons to subsequent MRD assessments 0561U Oncology (minimal residual disease [MRD]), genomic sequence analysis, cell-free DNA, whole blood, subsequent assessment with comparison to initial assessment to evaluate for MRD 0562U Oncology (solid tumor) targeted genomic sequence analysis, 33 genes, detection of single nucleotide variants (SNVs), insertions and deletions, copy number amplifications, and translocations in human genomic circulating cell-free DNA, plasma, reported as presence of actionable variants 0565U Oncology (hepatocellular carcinoma), next-generation sequencing methylation pattern assay to detect 6626 epigenetic alterations, cell-free DNA, plasma, algorithm reported as cancer signal detected or not detected 0566U Oncology (lung), qPCR-based analysis of 13 differentially methylated regions (CCDC181, HOXA7, LRRC8A, MARCHF11, MIR129-2, NCOR2, PANTR1, PRKCB, SLC9A3, TBR1_2, TRAP1, VWC2, ZNF781), pleural fluid, algorithm reported as a qualitative result 0567U Rare diseases (constitutional/heritable disorders), whole genome sequence analysis combination of short and long reads, for single nucleotide variants, deletions/insertions and characterized intronic variants, copy number variants, duplications/deletions, mobile element insertions, runs of homozygosity, aneuploidy and inversions, mitochondrial DNA sequence and deletions, short tandem repeat genes, methylation status of selected regions, blood, saliva, amniocentesis, chorionic villus sample or tissue, identification and categorization of genetic variants 0569U Oncology (solid tumor) next-generation sequencing analysis of tumor methylation markers (>20,000 differentially methylated regions) present in cell-free circulating tumor DNA (ctDNA), whole blood, algorithm reported as presence or absence of ctDNA with tumor fraction, if appropriate 0571U Oncology (solid tumor), DNA (80 genes) and RNA (10 genes), by next-generation sequencing, plasma, including single nucleotide variants, insertions/deletions, copy number alterations, microsatellite instability, and fusions, reported as clinically actionable variants 0575U Transplantation medicine (liver allograft rejection), miRNA gene expression profiling by RT- PCR of 4 genes (miR-122, miR-885, miR-23a housekeeping, spike-in control), serum, algorithm reported as risk of liver allograft rejection 0576U Transplantation medicine (liver allograft rejection), quantitative donor-derived cell-free DNA (cfDNA) by whole genome nextgeneration sequencing, plasma and mRNA gene expression profiling by multiplex real-time PCR of 56 genes, whole blood, combined algorithm reported as a rejection risk score 0578U Oncology (cutaneous melanoma), RNA, gene expression profiling by realtime qPCR of 10 genes (8 content and 2 housekeeping), utilizing formalin-fixed paraffin-embedded (FFPE) tissue, algorithm reports a binary result, either low-risk or high-risk for sentinel lymph node metastasis and recurrence 0582U Rare diseases (constitutional disease/hereditary disorders), rapid whole genome DNA sequencing for singlenucleotide variants, insertions/deletions, copy number variations, blood, saliva, tissue sample, variants reported

29

0583U Rare diseases (constitutional disease/hereditary disorders), rapid whole genome comparator DNA sequencing for single-nucleotide variants, insertions/deletions, copy number variations, blood, saliva, tissue sample, variants reported with proband results 0585U Targeted genomic sequence analysis panel, solid organ neoplasm, circulating cell-free DNA (cfDNA) analysis from plasma of 521 genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, and microsatellite instability, report shows identified mutations, including variants with clinical actionability 0586U Oncology, mRNA, gene expression profiling of 216 genes (204 targeted and 12 housekeeping genes), RNA expression analysis, formalin-fixed paraffin-embedded (FFPE) tissue, quantitative, reported as log2 ratio per gene 0592U Oncology (hematolymphoid neoplasms), DNA, targeted genomic sequence of 417 genes, interrogation for gene fusions, translocations, rearrangements, utilizing formalin-fixed paraffin-embedded (FFPE) tumor tissue, results report clinically significant variant(s) 0597U Oncology (breast), RNA expression profiling of 329 genes by targeted nextgeneration sequencing and 20 proteins by multiplex immunofluorescence, formalin-fixed paraffin- embedded (FFPE) tissue, algorithmic analyses to determine tumor-recurrence risk score 0605U Allergy and immunology (hereditary alpha tryptasemia), DNA, analysis of TPSAB1 gene copy number variation using digital PCR, whole blood, results reported with genotype-specific interpretation of alpha-tryptase copy number and algorithmic classification as normal or abnormal 0611U Oncology (liver), analysis of over 1,000 methylated regions, cell-free DNA from plasma, algorithm reported as a quantitative result 0612U Oncology (liver), analysis of over 1,000 methylated regions, cell-free DNA from plasma, algorithm reported as a quantitative result 0613U Oncology (urothelial carcinoma), DNA methylation and mutation analysis of 6 biomarkers (TWIST1, OTX1, ONECUT2, FGFR3, HRAS, TERT promoter region), methylation-specific PCR and targeted next-generation sequencing, urine, algorithm reported as a probability index for bladder cancer and upper tract urothelial carcinoma 0628U Nephrology (kidney disease-related genetic conditions), genomic analysis, renal disease panel, saliva, DNA, next-generation sequencing of 449 genes, reported as pathogenic or likely pathogenic variants of uncertain significance or risk alleles 0630U Oncology (breast), mRNA, gene expression profiling by microarray of 80 genes (80 content and 465 housekeeping), utilizing formalin-fixed paraffin-embedded tissue (FFPE), algorithm reported as an index that is diagnostic of a molecular subtype (luminal, basal, Her2)

HCPCS Codes HCPCS
codes Code Description G9143 Warfarin responsiveness testing by genetic technique using any method, any number of specimen(s) S3800 Genetic testing for amyotrophic lateral sclerosis (ALS) S3840 DNA analysis for germline mutations of the RET proto-oncogene for susceptibility to multiple endocrine neoplasia type 2 S3841 Genetic testing for retinoblastoma S3842 Genetic testing for Von Hippel-Lindau disease S3844 DNA analysis of the connexin 26 gene (GJB2) for susceptibility to congenital, profound deafness S3845 Genetic testing for alpha-thalassemia S3846 Genetic testing for hemoglobin E beta-thalassemia S3849 Genetic testing for Niemann-Pick disease S3850 Genetic testing for sickle cell anemia S3852 DNA analysis for APOE epsilon 4 allele for susceptibility to Alzheimer's disease S3853 Genetic testing for myotonic muscular dystrophy S3854 Gene expression profiling panel for use in the management of breast cancer treatment S3861 Genetic testing, sodium channel, voltage-gated, type V, alpha subunit (SCN5A) and variants for suspected Brugada Syndrome

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S3865 Comprehensive gene sequence analysis for hypertrophic cardiomyopathy S3866 Genetic analysis for a specific gene mutation for hypertrophic cardiomyopathy (HCM) in an individual with a known HCM mutation in the family S3870 Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder and/or intellectual disability

Policy History 4/2026 CPT codes were added: 0628U; 0630U. Effective 4/1/2026 1/2026 CPT codes were added: 81354; 81524; 0605U; 0611U; 0612U; 0613U. Effective 1/1/2026 10/2025 CPT codes were added: 0575U; 0576U; 0578U; 0582U; 0583U; 0585U; 0586U; 0592U; 0597U; 0204U. Effective 10/1/2025. 7/2025 CPT codes were added: 0552U; 0553U; 0554U; 0555U; 0560U; 0561U; 0562U; 0565U; 0566U; 0567U; 0569U; 0571U. Effective 7/1/2025. 4/2025 CPT codes were added: 0532U; 0533U; 0534U; 0536U; 0537U; 0538U; 0539U; 0540U; 0543U; 0544U; 0549U. Effective 4/1/2025. 1/2025 Policy revised to add that prior authorization is required for Medicare Advantage through Carelon. Effective January 1, 2025. Note: Prior to January 1, 2025, prior authorization through Carelon was not required for Medicare Advantage. Medicare NCDs and LCDs through the CMS website for genetic testing guidelines were followed for Medicare Advantage. CPT codes were added: 0523U; 0529U; 0530U; 81195; 88158. Deleted codes removed: 0380U; 0428U; 0448U; 0456U; 81433; 81436; 81438. Effective 1/1/2025. 10/1/2024 CPT codes were added: 0476U; 0477U; 0478U; 0481U; 0485U; 0486U; 0487U; 0488U; 0489U; 0493U; 0494U; 0496U; 0497U; 0498U; 0499U; 0500U; 0506U; 0507U; 0508U; 0509U; 0516U. Effective 10/1/2024. 7/2024 CPT codes were added: 0020M; 0452U; 0453U; 0454U; 0456U; 0460U; 0461U; 0465U; 0466U; 0467U; 0469U; 0471U; 0473U; 0474U; 0475U. Effective 7/1/2024.
4/2024 CPT codes were added: 0439U; 0440U; 0444U; 0448U; 0449U. Effective 4/1/2024. CPT code 0013M added. This code was inadvertently omitted.
Deleted codes removed: 0208U; 0081U; 0013U. 2/2024 CPT code 81420 removed. This code is out of scope from Carelon Program. Effective 2/1/2024. 1/2024 CPT codes were added: 81457; 81458; 81459; 81462; 81463; 81464. 0420U; 0422U; 0423U; 0424U; 0425U; 0426U; 0428U; 0433U; 0434U; 0437U; 0438U. Effective 1/1/2024. 10/2023 CPT codes were added: 0403U; ;0405U ; 0409U ; 0410U; 0411U; 0413U; 0414U; 0417U;
0419U. Effective 10/1/2023. CPT 0397U removed; code deleted effective 10/1/2023.
7/2023 CPT codes were added: 0388U; 0389U; 0392U; 0391U; 0396U; 0397U; 0400U; 0401U.
Effective 7/1/2023. 5/2023 Policy clarified to include ongoing prior authorization requirements as noted in MP #954 Carelon Genetic Testing Management Program. 4/2023 CPT codes were added: 0364U; 0368U; 0378U; 0379U; 0380U. Effective 4/1/2023. 3/2023 AIM Specialty Health changed its name to Carelon Medical Benefits Management. 1/2023 CPT codes were added: 0355U; 0356U; 0362U; 0363U; 81418; 81441; 81449; 81451;

  1. Effective 1/1/2023. 10/2022 CPT codes were deleted (retired codes). 0012U; 0013U; 0014U; 0056U. Effective 9/30/2022. CPT codes were added: 0332U;0333U;0334U;0335U;0336U;0339U;0340U 0341U;0343U;0345U;0347U;0348U;0349U; 0350U. Effective 10/1/2022. 7/2022 CPT codes were added: 0326U; 0327U; 0329U; 0331U. Effective 7/1/2022.

    4/2022 CPT codes were added: 0306U; 0307U; 0313U; 0314U; 0315U; 0317U; 0318U; 0319U; 0320U. Effective 4/1/2022. 1/2022 CPT codes were added: 81349; 81523; 0285U;0286U;0287U;0288U;0289U;0290U;0291U 0292U;0293U;0294U;0296U;0297U; 0298U;0299U;0300U. Effective 1/1/2022. 10/2021 CPT codes were added: 0258U; 0260U; 0262U; 0264U; 0265U; 0266U; 0267U; 0268U; 0269U; 0270U; 0271U; 0272U; 0273U; 0274U; 0276U; 0277U; 0278U. Deleted code 0168U Effective 10/1/2021. 7/2021 CPT codes were added: 0250U; 0252U; 0253U; 0254U. Effective 7/1/2021. 4/2021 CPT codes were added: 0242U;0245U.

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3/2021 CPT code was added: 0017M 1/2021 CPT codes were added: 81168; 81191; 81192; 81193; 81194; 81278; 81279; 81338; 81339; 81347; 81348; 81351; 81352; 81353; 81357; 81360; 81419; 81529; 81546; 81554; 0228U; 0229U; 0230U; 0231U; 0232U; 0233U; 0234U; 0235U; 0236U; 0237U; 0238U; 0239U.
Deleted codes 81545 and 0009M. Effective 1/1/2021. 10/2020 CPT codes were added: 0016M; 0203U; 0204U; 0205U; 0208U; 0209U; 0211U; 0212U; 0213U; 0214U; 0215U; 0216U; 0217U; 0218U. Effective 10/1/2020. 7/2020 CPT codes were added: 0172U, 0173U, 0175U, 0177U, 0179U. Effective 7/1/2020. 4/2020 CPT codes were added: 0168U;0169U; 0170U;0171U. Effective 4/1/2020. 1/2020 CPT codes were added: 0153U; 0154U; 0155U; 0156U; 0157U; 0158U; 0159U; 0160U; 0161U; 0162U; 81277; 81307; 81308; 81309; 81522; 81542; 81552. Effective 1/1/2020. 10/2019 CPT codes were added: 0111U; 0113U; 0114U; 0118U; 0120U; 0129U; 0130U; 0131U; 0132U; 0133U; 0134U; 0135U; 0136U; 0137U; 0138U. Deleted code: 0104U. Effective 10/1/2019. 7/2019 CPT codes were added: 0087U; 0088U; 0089U; 0090U; 0094U; 0101U; 0102U; 0103U; 0104U. Deleted code 0057U. Effective 7/1/2019. 3/2019 HCPCS code S3620 removed. Effective 3/22/2019. 3/2019 HCPCS codes G0452; G9840 & G9841 removed. 1/2019 New 1/1/2019 CPT codes added. Code 0081U added. Deleted codes: 81211, 81213, 81214.
Effective 1/1/2019. 11/2018 New document #957 issued. Effective 1/1/2019.

Disclaimer:
Coverage is subject to applicable benefit contract. Specific benefits may vary by product and/or employer group. Please reference appropriate member materials (e.g., Benefit Handbook, Certificate of Coverage) for member-specific benefit information.

Member’s medical records must document that services are medically necessary for the care provided. BCBS MA maintains the right to audit the services provided to our members, regardless of the participation status of the provider. All documentation must be available upon request. Failure to produce the requested information may result in denial or retraction of payment.

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