Prior authorization request form Form

Carrier Screening for Parents or Prospective Parents Last Review Date: April 10, 2026

Number: MG.MM.LA.10fv2

Medical Guideline Disclaimer The treating physician or primary care provider must submit to EmblemHealth the clinical evidence that the member meets the criteria for the treatment or surgical procedure. Without this documentation and information, EmblemHealth will not be able to properly review the request preauthorization or post-payment review. The clinical review criteria expressed below reflects how EmblemHealth determines whether certain services or supplies are medically necessary. This clinical policy is not intended to pre-empt the judgment of the reviewing medical director or dictate to health care providers how to practice medicine. Health care providers are expected to exercise their medical judgment in rendering appropriate care. Health care providers are expected to exercise their medical judgment in rendering appropriate care.
EmblemHealth established the clinical review criteria based upon a review of currently available clinical information (including clinical outcome studies in the peer reviewed published medical literature, regulatory status of the technology, evidence-based guidelines of public health and health research agencies, evidence- based guidelines and positions of leading national health professional organizations, views of physicians practicing in relevant clinical areas, and other relevant factors). EmblemHealth expressly reserves the right to revise these conclusions as clinical information changes and welcomes further relevant information. Each benefit program defines which services are covered. The conclusion that a particular service or supply is medically necessary does not constitute a representation or warranty that this service or supply is covered and/or paid for by EmblemHealth, as some programs exclude coverage for services or supplies that EmblemHealth considers medically necessary.
If there is a discrepancy between this guideline and a member's benefits program, the benefits program will govern. Identification of selected brand names of devices, tests and procedures in a medical coverage policy is for reference only and is not an endorsement of any one device, test or procedure over another. In addition, coverage may be mandated by applicable legal requirements of a state, the Federal Government or the Centers for Medicare & Medicaid Services (CMS) for Medicare and Medicaid members. All coding and web site links are accurate at time of publication.
EmblemHealth may also use tools developed by third parties, such as the MCG™ Care Guidelines, to assist us in administering health benefits. The MCG™ Care Guidelines are intended to be used in connection with the independent professional medical judgment of a qualified health care provider and do not constitute the practice of medicine or medical advice. EmblemHealth Services Company, LLC, has adopted this policy in providing management, administrative and other services to EmblemHealth Plan, Inc., EmblemHealth Insurance Company, EmblemHealth Services Company, LLC, and Health Insurance Plan of Greater New York (HIP) related to health benefit plans offered by these entities. All of the aforementioned entities are affiliated companies under common control of EmblemHealth Inc. Definitions Carrier screening
Used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. The testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions Gene mutation A change from the normal gene sequence of which underlies a detrimental clinical presentation associated with disease First-degree relative Parents, siblings, and children Second-degree relative Grandparents, aunts, uncles, half-siblings, nieces, nephews and grandchildren.
Third-degree relative Great-grandparents, great-aunts, great-uncles, grand-niece, grand-nephew, first cousin, great-grandchildren Hereditary (aka germline) gene mutations Mutations inherited from a parent and present throughout an individual’s life in virtually every cell in the body. When an egg and a sperm (germ) cell unite, the resulting fertilized egg cell receives DNA from both parents. If this DNA has a mutation, the child that grows from the fertilized egg will have the mutation in each of his or her cells X-linked disorder Disease caused by a gene mutation located on the X-sex. X-linked disorders are expressed in all males with the defective gene but only females with mutated genes on both X chromosomes express the disease Autosomal dominant

A gene mutation located on a numbered or non-sex chromosome which expresses a disease condition when present as part of a heterozygotic gene pair

Autosomal recessive A gene mutation located on a numbered or non-sex chromosome which expresses a disease condition only when present in homozygous pairs. Carriers are not at risk of developing the disease

Guideline Carrier screening for parents or prospective parents is considered medically necessary. Pre/post-test genetic counseling is strongly recommended:
A. Preconceptional or prenatal genetic testing is considered medically necessary when any of the following criteria based on family history is met:

1. Parents or prospective parents have a previously affected child with the genetic disease
2. One or both parents or prospective parents have 1st or 2nd degree relative who is affected or they have a first degree relative with an affected child
3. One parent or prospective parent is at high risk for a genetic disorder with a late onset presentation or is a known carrier for an autosomal recessive condition
4. One or both prospective parents have an autosomal dominant disorder
5. Prospective parents have a history of unexplained stillbirth or repeated 1st trimester miscarriages (≥ 3)
6. One or both individuals do not have access to a biological family history due to reasons such as adoption or use of a reproductive donor as documented in the member’s medical record
7. The individual and their reproductive partner are known or suspected to be consanguineous as documented in the member’s medical record B. Specific genetic testing is considered medically necessary when any of the above criteria are met and all of the following criteria are met:
8. The genetic disorder has been established in the scientific literature to be reliably associated with the disease and is associated high morbidity in the homozygous or compound heterozygous state
9. Alternate biochemical or other clinical tests are not available, provide an indeterminate result or are less effective than genetic testing
   C. The following specific genetic testing is always considered medically necessary:
10. Ashkenazi Jewish genetic disorders (JGDs) — to determine carrier status (i.e., [list may not be all- inclusive], Ashkenazi panel for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, familial hyperinsulinemia, Fanconi anemia Type C, Gaucher disease, glycogen storage disease [GSD] Type 1a, Joubert syndrome, maple-syrup urine disease [MSUD], mucolipidosis Type IV [MLIV], Niemann-Pick disease Type A, Tay-Sachs disease [TSD], Usher syndrome )
    Screening for Tay-Sachs disease should be offered when considering pregnancy or during pregnancy if either member of a couple is of Ashkenazi Jewish, French Canadian, or Cajun descent. Those with a family history consistent with Tay-Sachs disease also should be offered screening.
11. Cystic fibrosis (CF) — to determine carrier status for up to 23 CFTR gene mutations
12. Fragile X syndrome (no restrictions)
13. Hemoglobinopathies — to determine carrier status if any of the following is present: a. Mother is planning a pregnancy or currently pregnant and at least one parent is in an at-risk population (African, Southeast Asian and/or Mediterranean ancestry) b. Mother has a family history of hemoglobinopathy

c. The other partner is a known carrier or affected with a hemoglobinopathy (e.g., Sickle cell disease)

5. Spinal muscular atrophy (no restrictions) Limitations/Exclusions A. Coverage is limited to once per lifetime, as repeat screening is not considered medically necessary.
   B. Coverage for CF testing is limited to analysis of the 23 the most common CFTR gene mutations.
   C. If one parent/prospective parent screens negative for a disease associated with an autosomal recessive disorder then testing the other parent is not considered medically necessary D. Coverage is contingent on the following:
6. Test targets analysis to the number of genes associated with medically necessary indications listed above (applicable to “D” below)
7. Test result must impact medical management of a current pregnancy and/or the reproductive choices of the (if request is for conditions other than those listed above)
8. Test must has proven validity in the medical community for the identification of a specific genetically linked inheritable disease E. Next generation sequencing (i.e., rapid sequencing of large numbers of DNA segments, up to and including entire genomes) is not considered medically necessary. Expanded panels typically screen for diseases present with increased frequency in specific populations, however they also screen for diseases outside the carrier risk (diminishing the clinical utility of the test) and thus present considerable ethical and genetic counseling challenges. EmblemHealth therefore considers reproductive carrier screening panels with ≥ 16 genes to be unproven and not medically necessary due to insufficient evidence of efficacy.
   The following tests fall into the unproven category (list may not be all-inclusive):
   • Foresight Screening, Myriad
   • GeneAware™ (all expanded panel tests)
   • Genesys Carrier Panel, Genesys Diagnostics
   • Horizon Advanced Carrier Screening (Natera)
   • Inheritest® (100, 300, and 500 plus panels) (Labcorp)
   • Invitae carrier screening
   • SEMA4 Elements (Myriad) F. Home testing (e.g., direct-to-consumer; aka home-testing kits) or self-referral testing (e.g., genetic tests ordered by members via telephone or Internet) is not considered medically necessary, as there is no evidence of efficacy. Revision History May 8, 2026 Updated to “≥ 16” (from “> 16”) to accurately reflect the number of genes deemed not medically necessary for analysis.
     Apr. 10, 2026 Deleted Unity Carrier Screen from list of unproven tests Added covered indications for when individuals do not have access to a biological family history, and for when individuals are known or suspected to be consanguineous Nov. 14, 2025 Added clarification that carrier screening panels sequencing 16 or more genes are unproven and not medically necessary

Sept. 10, 2021 Added 4 autosomal recessive conditions (familial hyperinsulinemia, Joubert syndrome, maple syrup urine disease, and Usher syndrome) to Ashkenazi Jewish genetic disorders (eff. 12/10/2021), and noted that the list of examples may not be all-inclusive.
Added note pertaining to Tay-Sachs disease regarding screening members of Ashkenazi Jewish, French Canadian, or Cajun descent, as well as those with a family history consistent with Tay-Sachs disease. Sept. 14, 2018 Added to Limitations/Exclusions that if one parent screens negative for an autosomal recessive disorder then testing the other parent is not medically necessary. Apr. 13, 2018 Removed SMA restrictions. Oct. 13, 2017 Removed Fragile X restrictions. Jan.1, 2016 Added hemoglobinopathy and SMA criteria for clarification.

Applicable Procedure Codes 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, deletions, and mobile element insertions (Not covered for Medicaid) 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) (eff. 4/1/2024) (Not covered for Medicaid) 81200 ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X) 81205 BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X) 81209 BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant 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) 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 methylation status) 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) 81255 HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S) 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, and Constant Spring)

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) 81271 HTT (huntingtin) (eg, Huntington disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles 81274 HTT (huntingtin) (eg, Huntington disease) gene analysis; characterization of alleles (eg, expanded size) 81290 MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb) 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) 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) 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) LINC00518 (long intergenic non-protein coding RNA 518) (eg, melanoma), expression analysis PRAME (preferentially expressed antigen in melanoma) (eg, melanoma), expression analysis
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) CPOX (coproporphyrinogen oxidase) (eg, hereditary coproporphyria), full gene sequence CTRC (chymotrypsin C) (eg, hereditary pancreatitis), full gene sequence PKLR (pyruvate kinase, liver and RBC) (eg, pyruvate kinase deficiency), full gene sequence
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) ANOS1 (anosmin-1) (eg, Kallmann syndrome 1), full gene sequence HMBS (hydroxymethylbilane synthase) (eg, acute intermittent porphyria), full gene sequence PPOX (protoporphyrinogen oxidase) (eg, variegate porphyria), full gene sequence
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) 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 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) 81479 Unlisted molecular pathology procedure 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 81599 Unlisted multianalyte assay with algorithmic analysis Applicable ICD-10 Diagnosis Codes D56.0 Alpha thalassemia D56.4 Hereditary persistence of fetal hemoglobin [HPFH] D56.5 Hemoglobin E-beta thalassemia D56.8 Other thalassemias D57.00 Hb-SS disease with crisis, unspecified D57.01 Hb-SS disease with acute chest syndrome D57.02 Hb-SS disease with splenic sequestration D57.04 Hb-SS disease with dactylitis D57.1 Sickle-cell disease without crisis D57.20 Sickle-cell/Hb-C disease without crisis D57.211 Sickle-cell/Hb-C disease with acute chest syndrome D57.212 Sickle-cell/Hb-C disease with splenic sequestration D57.214 Sickle-cell/Hb-C disease with dactylitis D57.219 Sickle-cell/Hb-C disease with crisis, unspecified D57.3 Sickle-cell trait D57.40 Sickle-cell thalassemia without crisis D57.411 Sickle-cell thalassemia with acute chest syndrome D57.412 Sickle-cell thalassemia with splenic sequestration D57.414 Sickle-cell thalassemia, unspecified, with dactylitis D57.419 Sickle-cell thalassemia with crisis, unspecified D57.434 Sickle-cell thalassemia beta zero with dactylitis D57.454 Sickle-cell thalassemia beta plus with dactylitis D57.80 Other sickle-cell disorders without crisis D57.811 Other sickle-cell disorders with acute chest syndrome D57.812 Other sickle-cell disorders with splenic sequestration D57.814 Other sickle-cell disorders with dactylitis D57.819 Other sickle-cell disorders with crisis, unspecified D58.2 Other hemoglobinopathies D61.02 Shwachman-Diamond syndrome

D61.03 Fanconi anemia D61.09 Other constitutional aplastic anemia D80.6 Antibody deficiency with near-normal immunoglobulins or with hyperimmunoglobulinemia D82.1 Di George's syndrome D89.84 IgG4-related disease E23.6 Other disorders of pituitary gland E28.8 Other ovarian dysfunction E71.0 Maple-syrup-urine disease E74.00 Glycogen storage disease, unspecified E74.01 von Gierke disease E74.02 Pompe disease E74.03 Cori disease E74.04 McArdle disease E74.05 Lysosome-associated membrane protein 2 [LAMP2] deficiency E74.09 Other glycogen storage disease E74.4 Disorders of pyruvate metabolism and gluconeogenesis E75.00 GM2 gangliosidosis, unspecified E75.01 Sandhoff disease E75.02 Tay-Sachs disease E75.09 Other GM2 gangliosidosis E75.10 Unspecified gangliosidosis E75.11 Mucolipidosis IV E75.19 Other gangliosidosis E75.21 Fabry (-Anderson) disease E75.22 Gaucher disease E75.23 Krabbe disease E75.240 Niemann-Pick disease type A E75.241 Niemann-Pick disease type B E75.242 Niemann-Pick disease type C E75.243 Niemann-Pick disease type D E75.248 Other Niemann-Pick disease E75.249 Niemann-Pick disease, unspecified E75.25 Metachromatic leukodystrophy E75.27 Pelizaeus-Merzbacher disease E75.28 Canavan disease E75.29 Other sphingolipidosis E75.3 Sphingolipidosis, unspecified E75.4 Neuronal ceroid lipofuscinosis E77.0 Defects in post-translational modification of lysosomal enzymes

E77.1 Defects in glycoprotein degradation E77.8 Other disorders of glycoprotein metabolism E77.9 Disorder of glycoprotein metabolism, unspecified E79.81 Aicardi-Goutieres syndrome E79.82 Hereditary xanthinuria E79.89 Other specified disorders of purine and pyrimidine metabolism E84.0 Cystic fibrosis with pulmonary manifestations E84.11 Meconium ileus in cystic fibrosis E84.19 Cystic fibrosis with other intestinal manifestations E84.9 Cystic fibrosis, unspecified E88.A Wasting disease (syndrome) due to underlying condition G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia G11.2 Late-onset cerebellar ataxia G11.5 Hypomyelination - hypogonadotropic hypogonadism - hypodontia G11.6 Leukodystrophy with vanishing white matter disease G12.1 Other inherited spinal muscular atrophy G12.8 Other spinal muscular atrophies and related syndromes G12.9 Spinal muscular atrophy, unspecified G90.1 Familial dysautonomia [Riley-Day] L10.4 Pemphigus erythematosus N96 Recurrent pregnancy loss Q04.3 Other reduction deformities of brain O09.291 Supervision of pregnancy with other poor reproductive or obstetric history, first trimester O09.292 Supervision of pregnancy with other poor reproductive or obstetric history, second trimester O09.293 Supervision of pregnancy with other poor reproductive or obstetric history, third trimester O09.299 Supervision of pregnancy with other poor reproductive or obstetric history, unspecified trimester Q90.0 Trisomy 21, nonmosaicism (meiotic nondisjunction) Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction) Q90.2 Trisomy 21, translocation Q90.9 Down syndrome, unspecified Q91.0 Trisomy 18, nonmosaicism (meiotic nondisjunction) Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction) Q91.2 Trisomy 18, translocation Q91.3 Trisomy 18, unspecified Q91.4 Trisomy 13, nonmosaicism (meiotic nondisjunction) Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction) Q91.6 Trisomy 13, translocation Q91.7 Trisomy 13, unspecified

Q92.0 Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction) Q92.2 Partial trisomy Q92.7 Triploidy and polyploidy Q92.8 Other specified trisomies and partial trisomies of autosomes Q92.9 Trisomy and partial trisomy of autosomes, unspecified Q95.0 Balanced translocation and insertion in normal individual Q95.2 Balanced autosomal rearrangement in abnormal individual Q95.3 Balanced sex/autosomal rearrangement in abnormal individual Q96.0 Karyotype 45, X Q96.1 Karyotype 46, X iso (Xq) Q96.2 Karyotype 46, X with abnormal sex chromosome, except iso (Xq) Q96.3 Mosaicism, 45, X/46, XX or XY Q96.4 Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome Q97.0 Karyotype 47, XXX Q97.1 Female with more than three X chromosomes Q97.2 Mosaicism, lines with various numbers of X chromosomes Q97.3 Female with 46, XY karyotype Q97.8 Other specified sex chromosome abnormalities, female phenotype Q97.9 Sex chromosome abnormality, female phenotype, unspecified Q98.0 Klinefelter syndrome karyotype 47, XXY Q98.1 Klinefelter syndrome, male with more than two X chromosomes Q98.3 Other male with 46, XX karyotype Q98.4 Klinefelter syndrome, unspecified Q98.5 Karyotype 47, XYY Q98.6 Male with structurally abnormal sex chromosome Q98.7 Male with sex chromosome mosaicism Q98.8 Other specified sex chromosome abnormalities, male phenotype Q98.9 Sex chromosome abnormality, male phenotype, unspecified Q99.0 Chimera 46, XX/46, XY Q99.1 46, XX true hermaphrodite Q99.2 Fragile X chromosome Q99.8 Other specified chromosome abnormalities Q99.9 Chromosomal abnormality, unspecified Z14.1 Cystic fibrosis carrier Z14.8 Genetic carrier of other disease Z15.89 Genetic susceptibility to other disease Z31.430 Encounter of female for testing for genetic disease carrier status for procreative management Z31.438 Encounter for other genetic testing of female for procreative management

Z31.440 Encounter of male for testing for genetic disease carrier status for procreative management Z31.441 Encounter for testing of male partner of patient with recurrent pregnancy loss Z31.5 Encounter for procreative genetic counseling
Z36.0 Encounter for antenatal screening for chromosomal anomalies
Z36.1 Encounter for antenatal screening for raised alphafetoprotein level
Z36.2 Encounter for other antenatal screening follow-up
Z36.3 Encounter for antenatal screening for malformations
Z36.4 Encounter for antenatal screening for fetal growth retardation
Z36.5 Encounter for antenatal screening for isoimmunization
Z36.81 Encounter for antenatal screening for hydrops fetalis
Z36.82 Encounter for antenatal screening for nuchal translucency
Z36.83 Encounter for fetal screening for congenital cardiac abnormalities
Z36.84 Encounter for antenatal screening for fetal lung maturity
Z36.85 Encounter for antenatal screening for Streptococcus B
Z36.86 Encounter for antenatal screening for cervical length
Z36.87 Encounter for antenatal screening for uncertain dates
Z36.88 Encounter for antenatal screening for fetal macrosomia
Z36.89 Encounter for other specified antenatal screening
Z36.8A Encounter for antenatal screening for other genetic defects
Z84.81 Family history of carrier of genetic disease

References American College of Medical Genetics. Carrier screening in individuals of Ashkenazi Jewish descent. January 2008. reaffirmed 2013.
American College of Obstetricians and Gynecologists Committee Opinion Number Number 691. Carrier Sreening for Genetic Conditions. Reaffirmed 2023.
American College of Obstetricians and Gynecologists Committee Opinion 690, Carrier Screening in the Age of Genomic Medicine, reaffirmed 2023.
National Library of Medicine. Genetics Consumer Page. http://ghr.nlm.nih.gov/handbook/testing/uses. Accessed April 10, 2026. Human Genome Research Institute. Talking Glossary of Genetic Terms. http://www.genome.gov/glossary/. Accessed April 10, 2026. Elson J, Drakeley A, Achilli C, Canham N, Kulke C; Royal College of Obstetricians and Gynaecologists. The Use of Expanded Carrier Screening in Reproductive Medicine: Scientific Impact Paper No. 74. BJOG. 2024 Sep;131(10):e81-e85. doi: 10.1111/1471-0528.17832. Epub 2024 Jun 5. PMID: 38839259. IRink D B. Preconception and prenatal panethnic expanded carrier screening. In: UpToDate, Wilkins-Haug, L Eckler, K (Ed), Wolters Kluwer (Accessed on December 4, 2025) Specialty matched clinical peer review.