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CENTENE Corporation

Concert Genetics Genetic Testing: Prenatal and Preconception Carrier Screening V2.2024 Date of Last Revision: 04/24

Revision log Coding Implications

CONCERT GENETICS GENETIC

TESTING: PRENATAL AND

PRECONCEPTION CARRIER

SCREENING

See Important Reminder at the end of this policy for important regulatory and legal information.

OVERVIEW

There are more than 1,300 inherited recessive disorders (autosomal or X-linked) that affect 30 out of every 10,000 children. Some diseases have limited impact on either length or quality of life, while others are uniformly fatal in infancy or childhood. By definition, autosomal recessive disorders arise when both parents pass on disease-causing copies of genes to a child. X-linked recessive conditions arise when a disease-causing version of a gene is on the X-chromosome and is passed to a child with a male reproductive system who only has one copy of the X- chromosome.

Carrier screening is performed to identify individuals at risk of having offspring with inherited recessive or X-linked single-gene disorders. Carriers are typically asymptomatic but can pass disease-causing variants to their offspring. The majority of professional societies recommend carrier screening prior to pregnancy. Risk-based carrier screening is performed in individuals who have an increased risk to be a carrier based on population carrier frequency, ethnicity, and/or family history.

Expanded carrier screening (ECS) involves screening individuals or couples for disorders in many genes simultaneously (up to 100s) by next-generation sequencing. ECS panels may screen for diseases that are present with increased frequency in specific populations, but also include a wide range of diseases for which the individual seeking testing is not at increased risk for positive carrier status. The conditions included on ECS panels are not standardized and the panels may include conditions that are not well understood and for which there are no existing professional guidelines.

CENTENE Corporation

Concert Genetics Genetic Testing: Prenatal and Preconception Carrier Screening V2.2024 Date of Last Revision: 04/24

“Negative” carrier screening results reduce, but do not eliminate, the chance of an individual being a carrier for the condition(s) screened. Therefore, there is still a “residual risk” of being a carrier for the condition(s) screened. The residual risk is the chance that the individual is still a carrier based on a normal/negative carrier screen. The residual risk will vary depending on which test is performed, how many mutations are included for each condition, the patient’s ethnicity, etc.

It is important to recognize that family history, ethnicity, and race are self-reported, and may not be completely accurate, particularly in multi-ethnic and multi-racial societies.

When one member/enrollee of a couple is at high risk of being a carrier for a certain condition due to ancestry (e.g., Ashkenazi Jewish, French-Canadian, Cajun, etc.) or has a family history of a condition, the high-risk partner should be offered screening. If the high-risk partner is found to be a carrier, the other partner should then be offered screening.

Genetic counseling is strongly recommended for patients considering expanded carrier screening.

POLICY REFERENCE TABLE

Coding Implications

This clinical policy references Current Procedural Terminology (CPT®). CPT is a registered trademark of the American Medical Association. All CPT codes and descriptions are copyrighted 2023, American Medical Association. All rights reserved. CPT codes and CPT descriptions are from the current manuals and those included herein are not intended to be all-inclusive and are included for informational purposes only. Codes referenced in this clinical policy are for informational purposes only. Inclusion or exclusion of any codes does not guarantee coverage. Providers should reference the most up-to-date sources of professional coding guidance prior to the submission of claims for reimbursement of covered services.

The tests and associated laboratories and CPT codes contained within this document serve only as examples to help users navigate claims and corresponding criteria; as such, they are not comprehensive and are not a guarantee of coverage or non-coverage. Please see the Concert Genetics Platform for a comprehensive list of registered tests

Criteria Sections	Example Tests (Labs)	Common CPT Codes	Common ICD Codes	Ref
Expanded Carrier Screening Panels	Foresight Universal Panel Carrier Screen (Myriad Genetics)	81329, 81443	O09, Z13, Z31, Z34,	2, 4

| | Inheritest 500 Plus Panel (Labcorp) | 81443 | Z36, Z84 | |

| | GeneSeq Plus (Labcorp) | 81336, 81405,81408, 81479 | | |

| | QHerit™ Expanded Carrier Screen (Quest Diagnostics) | 81243, 81443 | | |

| | Horizon 27 (27 disease Pan-ethnic Standard Panel) (Natera) | 81243, 81257, 81329, 81443 | | |

| | Genesys Carrier Panel (Genesys Diagnostics) | 0400U | | |

| Basic Carrier Screening Panels (Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, Hemoglobinopathies, not more than 14 genes) | Inheritest Core Panel (Labcorp) | 81220, 81222, 81223, 81243, 81257, 81329, 81336, 81257, 81243, 81329, 81336, | O09, Z13, Z31, Z34, Z36, Z84 | 2, 3 |

| | Inheritest Carrier Screen - Society Guided Panel (14 Genes) (Labcorp) | | | |

| | Prenatal Carrier Panel (Quest Diagnostics) | 81336 | | |

| | Foresight Fundamental Panel (Myriad Genetics) | | | |

| | UNITY Carrier Screen (BillionToOne) | 0449U | | |

| CFTR Sequencing Deletion/Duplication Analysis, or Mutation Panel | Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence (Quest Diagnostics) | 81223 | | 1, 10 |

| | Cystic Fibrosis Gene Deletion or Duplication (Quest Diagnostics) | 81222 | | |

| | CFvantage Cystic Fibrosis Expanded Screen (Quest Diagnostics) | 81220 | | |

| CFTR Intron 9 PolyT and TG Analysis (previously | CFTR Intron 8 Poly-T Analysis (Quest Diagnostics) | 81224 | | 1 |

| Spinal Muscular Atrophy Carrier Screening | | | | |

| SMN1 Sequencing and/or Deletion/Duplication and SMN2 Deletion/ Duplication Analysis | Spinal Muscular Atrophy Carrier Test (Natera) | 81329, 81336, 81401, 81405 | | 3, 5 |

| | Genomic Unity SMN1/2 Analysis (Variantyx Inc) | 0236U | | |

| | Fragile X Syndrome, PCR and Southern Blot Analysis (Labcorp) | | | |

| | HBA1 Targeted Variant - Single Test (GeneDx) | | | |

| | HBA2 Targeted Variant - Single Test (GeneDx) | | | |

| | HBB Targeted Variant - Single Test (GeneDx) | 81361, 81362 | | |

| HBA1, HBA2, or HBB Sequencing and/or Deletion/Duplication Analysis | Alpha-Globin Gene Sequencing and Deletion/Duplication (Quest Diagnostics) | 81259, 81269, 81363, 81364 | | 11 |

| | HBA1 Deletion/Duplication (GeneDx) HBA2 Deletion/Duplication (GeneDx) | | | |

| | HBB Carrier-Full Gene Sequencing and Deletion/Duplication (Invitae) | | | |

CENTENE Corporation

Concert Genetics Genetic Testing: Prenatal and Preconception Carrier Screening V2.2024 Date of Last Revision: 04/24

| Duchenne and Becker Muscular Dystrophy Carrier Screening | | | | |

| DMD Sequencing and/or Deletion/Duplication Analysis | Duchenne/Becker MD (DMD) Gene Sequencing (GeneDx) | 81161, 81408 | | 7 |

| | Duchenne/Becker MD (DMD) Del/Dup (GeneDx) | | | |

| | Genomic Unity DMD Gene Analysis (Variantyx) | 0218U | | |

This policy document provides criteria for Prenatal and Preconception Carrier Screening. Please refer to:

Genetic Testing: Prenatal Diagnosis (via amniocentesis, CVS, or PUBS) and Pregnancy Loss for coverage related to prenatal and pregnancy loss diagnostic genetic testing intended to diagnose genetic conditions following amniocentesis, chorionic villus sampling, or pregnancy loss.
Genetic Testing: Noninvasive Prenatal Screening (NIPS) for criteria related to prenatal cell-free DNA screening tests.
Genetic Testing: Preimplantation Genetic Testing for criteria related to genetic testing of embryos prior to in vitro fertilization.
Genetic Testing: Multisystem Inherited Disorders, Intellectual Disability and Developmental Delay for criteria related to suspected multisystem genetic conditions in the postnatal period.
Genetic Testing: Hearing Loss for coverage related to diagnostic genetic testing for hereditary hearing loss.

CENTENE Corporation

Concert Genetics Genetic Testing: Prenatal and Preconception Carrier Screening V2.2024 Date of Last Revision: 04/24

Genetic Testing: Hematologic Conditions (non-cancerous) for coverage related to diagnostic genetic testing for alpha-thalassemia and other hemoglobinopathies.
Genetic Testing: Metabolic, Endocrine, and Mitochondrial Disorders for coverage related to diagnostic genetic testing for mitochondrial and other disorders.
Genetic Testing: General Approach to Genetic and Molecular Testing for criteria related to carrier screening that is not specifically discussed in this or other non-general policies.

CRITERIA

It is the policy of health plans affiliated with Centene Corporation® that the specific genetic testing noted below is medically necessary when meeting the related criteria:

EXPANDED CARRIER SCREENING PANELS

I. Expanded carrier screening panels (81243, 81257, 81329, 81336, 81405, 81408, 81479, 0400U,81443*) may be considered medically necessary when:

A. The member/enrollee is considering pregnancy or is currently pregnant**, AND
B. The panel includes the genes CFTR and SMN1.

II. Expanded carrier screening panels (81243, 81257, 81329, 81336, 81405, 81408, 81479, 0400U, 81443*) are considered investigational for all other indications.

*Fragile X (81243) and spinal muscular atrophy (SMA) (81329) carrier screening may be billed along with 81443 if performed separately from the remainder of the panel per CPT Code Book Guidelines. If 81243 is billed along with 81443, the patient should still meet the specific Fragile X syndrome criteria.

**ACMG recommends follow-up screening for the partner of the member/enrollee that is pregnant or considering pregnancy via analysis of the same gene that has the pathogenic or LP variant as identified in the member/enrollee. Therefore, expanded carrier screening panels are not recommended to be completed by both reproductive partners in tandem.

CENTENE Corporation

Concert Genetics Genetic Testing: Prenatal and Preconception Carrier Screening V2.2024 Date of Last Revision: 04/24

*ACMG recommends follow-up screening for the partner of the member/enrollee that is pregnant or considering pregnancy via analysis of the same gene that has the pathogenic or LP variant as identified in the member/enrollee. Therefore, basic carrier screening panels are not recommended to be completed by both reproductive partners in tandem.

CENTENE Corporation

Concert Genetics Genetic Testing: Prenatal and Preconception Carrier Screening V2.2024 Date of Last Revision: 04/24

CFTR Sequencing, Deletion/Duplication Analysis, or Mutation Panel

I. Cystic fibrosis carrier screening via CFTR sequencing (81223), deletion/duplication analysis (81222

# Concert Genetics Genetic Testing: Prenatal and Preconception Carrier Screening  
V2.2024  
Date of Last Revision: 04/24  

Note: If a member/enrollee’s reproductive partner is known to be a carrier of a hemoglobinopathy, via genetic testing results and/or hematologic screening results, the more appropriate test for the member/enrollee is likely HBA1, HBA2, or HBB Sequencing and/or Deletion/Duplication Analysis.  

  

*NOTE:* Refer to Genetic Testing for Hematologic Disorders (non-cancerous) for criteria for genetic testing to establish a diagnosis of a hemoglobinopathy.  

[back to top](#)  

  

[back to top](#)  

  

  

*NOTE:* Refer to Genetic Testing for Epilepsy, Neuromuscular, and Neurodegenerative Disorders for criteria for genetic testing to establish a diagnosis of Duchenne or Becker muscular dystrophy.  

[back to top](#)  

## DEFINITIONS  
1. Close relatives include first, second, and third degree relatives on the same side of the family:  
   a. First-degree relatives are parents, siblings, and children  
   b. Second-degree relatives are grandparents, aunts, uncles, nieces, nephews, grandchildren, and half siblings  
   c. Third-degree relatives are great grandparents, great aunts, great uncles, great grandchildren, and first cousins.  

## BACKGROUND AND RATIONALE  
### Expanded Carrier Screening Panels  

## American College of Obstetricians and Gynecologists (ACOG)  
The American College of Obstetricians and Gynecologists (ACOG) published practice bulletin No. 690 (2017, reaffirmed 2023) regarding “Carrier Screening in the Age of Genomic Medicine”, which made the following recommendations: “Ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for pre pregnancy and prenatal carrier screening. Each obstetrician–gynecologist or other health care provider or practice should establish a standard approach that is consistently offered to and discussed with each patient, ideally before pregnancy. After counseling, a patient may decline any or all carrier screening.” (p. e35)  

It was also recommended that: “All patients who are considering pregnancy or are already pregnant, regardless of screening strategy and ethnicity, should be offered carrier screening for cystic fibrosis and spinal muscular atrophy, as well as a complete blood count and screening for thalassemias and hemoglobinopathies.” (p. e35)  

## American College of Medical Genetics and Genomics (ACMG):  
ACMG published a practice resource (2021) regarding screening for autosomal recessive and X-linked conditions during pregnancy and preconception, which includes the following recommendations:  
- The phrase “expanded carrier screening” be replaced by “carrier screening”.  
- Adopting a more precise tiered system based on carrier frequency (p. 1796)  
  - Tier 1: CF + SMA + Risk Based Screening  
  - Tier 2: 1/100 carrier frequency or higher (includes Tier 1)  
  - Tier 3: 1/200 carrier frequency or higher (includes Tier 2) includes X-linked conditions  
  - Tier 4: 1/200 carrier frequency or higher (includes Tier 3) genes/condition will vary by lab  
- All pregnant patients and those planning a pregnancy should be offered Tier 3 carrier screening for autosomal recessive and X-linked conditions. (p. 1797)  
- Tier 4 screening should be considered (p. 1797):  
  - When a pregnancy stems from a known or possible consanguineous relationship (second cousins or closer)  
  - When a family or personal medical history warrants.  
- Reproductive partners of pregnant patients and those planning a pregnancy may be offered Tier 3 carrier screening for autosomal recessive conditions when carrier screening is performed simultaneously with their partner.  
- Additionally, ACMG recommends follow-up screening of the partner with analysis of the same gene that has the pathogenic or LP variant as that identified in the partner. (p. 1804)  

## Basic Carrier Screening Panels (Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, Hemoglobinopathies, not more than 14 genes)  
### American College of Obstetricians and Gynecologists (ACOG)  
ACOG published practice bulletin No. 691 (March 2017, reaffirmed 2023), which includes the following recommendations related to carrier screening (p. 598):  
- Screening for spinal muscular atrophy should be offered to all women who are considering pregnancy or are currently pregnant.  
- Cystic fibrosis carrier screening should be offered to all women who are considering pregnancy or are currently pregnant.  

ACOG published practice bulletin No. 690 (March 2017, reaffirmed 2023), which includes the following recommendations related to carrier screening (p. e35):  

All patients who are considering pregnancy or are already pregnant, regardless of screening strategy and ethnicity, should be offered carrier screening for cystic fibrosis and spinal muscular atrophy, as well as a complete blood count and screening for thalassemias and hemoglobinopathies.  

## CYSTIC FIBROSIS CARRIER SCREENING  
### CFTR Known Familial Variant Analysis  
ACOG published practice bulletin No. 691 (March 2017, reaffirmed 2023) and the following recommendations related to carrier screening:  

Cystic fibrosis carrier screening should be offered to all women who are considering pregnancy or are currently pregnant. When both partners are unaffected, but one or both has a family history of cystic fibrosis, genetic counseling and medical record review should be performed to determine if CFTR mutation analysis in the affected family member is available. Carrier screening should be offered for both partners, with attention to ensure that the familial mutation is included in the assessment. (p. 598)  

## CFTR Sequencing and/or Deletion/Duplication Analysis, or Mutation Panel  
### American College of Medical Genetics and Genomics (ACMG)  
In their 2023 position statement for CFTR variant testing, the American College of Medical Genetics and Genomics (ACMG) recommends a minimum number of 100 variants tested in the CFTR gene if carrier testing is pursued: “The new CFTR variant set [n=100; see p. 6] represents an updated minimum recommended variant set for CF [cystic fibrosis] carrier screening, and this new set now supersedes the previous set of 23 CFTR variants recommended by the ACMG.” (p. 7)  

In their 2020 technical standard for CFTR, the ACMG recommends that laboratories performing initial CFTR variant testing on an individual can use either targeted or comprehensive methods to evaluate the gene. If pathogenic or likely pathogenic CFTR variants have been confirmed in both biological parents, or an affected full sibling, only targeted methods should be used. (p. 7)  

## CFTR Intron 9 PolyT and TG Analysis (previously called Intron 8 polyT/TG Analysis)  
### American College of Medical Genetics and Genomics (ACMG)  
In their 2020 technical standard for CFTR variant testing, the American College of Medical Genetics and Genomics (ACMG) recommends that, for all prenatal, postnatal, and adult diagnostic testing indications for CFTR, the R117H status as well as the results from at least the associated polyT tract be reported. For all adult carrier screening indications for CFTR, polyT status should be reported when the R117H variant is detected; laboratories may also want to consider reporting the results from the associated polyT tract in the partner of an individual who had a pathogenic or likely pathogenic variant detected during screening. (p. 12)  

## SPINAL MUSCULAR ATROPHY CARRIER SCREENING  
### SMN1 Targeted Variant Analysis  
### American College of Obstetricians and Gynecologists (ACOG)  

The American College of Obstetricians and Gynecologists (ACOG) published practice bulletin No. 691 (2017, reaffirmed 2023) regarding “Carrier Screening for Genetic Conditions”, which made the following recommendations (p. 597-598):  

When an individual is found to be a carrier for a genetic condition, the individual’s relatives are at risk of carrying the same mutation. Individuals with a positive family history of a genetic condition should be offered carrier screening for the specific condition and may benefit from genetic counseling.  

## SMN1 Sequencing and/or Deletion/Duplication and SMN2 Deletion/Duplication Analysis  
### American College of Obstetricians and Gynecologists (ACOG)  
The American College of Obstetricians and Gynecologists (ACOG) published practice bulletin No. 691 (March 2017, reaffirmed 2023) and the following recommendations (p. 598:  
- Screening for spinal muscular atrophy should be offered to all women who are considering pregnancy or are currently pregnant.  
- In patients with a family history of spinal muscular atrophy, molecular testing reports of the affected individual and carrier testing of the related parent should be reviewed, if possible, before testing. If the reports are not available, SMN1 deletion testing should be recommended for the low-risk partner.  

### American College of Medical Genetics and Genomics (ACMG)  
The American College of Medical Genetics and Genomics recommended the following on carrier screening for spinal muscular atrophy (Prior, et al, 2008):  

Because SMA is present in all populations, carrier testing should be offered to all couples regardless of race or ethnicity. Ideally, the testing should be offered before conception or early in pregnancy. The primary goal is to allow carriers to make informed reproductive choices. (p. 841)  

## FRAGILE X SYNDROME CARRIER SCREENING  
### FMRI Repeat Analysis  
### American College of Obstetricians and Gynecologists (ACOG)  
The American College of Obstetricians and Gynecologists (ACOG) published practice bulletin No. 691 (2017, reaffirmed in 2023) regarding “Carrier Screening for Genetic Conditions”, which made the following recommendations (p. 2):  

- Fragile X premutation carrier screening is recommended for women with a family history of fragile X-related disorders or intellectual disability suggestive of fragile X syndrome and who are considering pregnancy or are currently pregnant.  
- If a woman has unexplained ovarian insufficiency or failure or an elevated follicle-stimulating hormone level before age 40 years, fragile X carrier screening is recommended to determine whether she has an FMRI premutation.  
- All identified individuals with intermediate results and carriers of a fragile X premutation or full mutation should be provided follow-up genetic counseling to discuss the risk to their offspring of inheriting an expanded full-mutation fragile X allele and to discuss fragile X-associated disorders (premature ovarian insufficiency and fragile X tremor/ataxia syndrome).  
- Prenatal diagnostic testing for fragile X syndrome should be offered to known carriers of the fragile X premutation or full mutation.  

### American College of Medical Genetics and Genomics (ACMG)  
ACMG published practice guidelines for carrier screening for Fragile X syndrome (2005), which recommended that Fragile X syndrome carrier testing should be offered to individuals with the following:  
- Individuals seeking reproductive counseling who have (a) a family history of fragile X syndrome or (b) a family history of undiagnosed mental retardation.  
- Women who are experiencing reproductive or fertility problems associated with elevated follicle stimulating hormone (FSH) levels, especially if they have (a) a family history of premature ovarian failure, (b) a family history of fragile X syndrome, or (c) relatives with male reproductive systems or female reproductive systems with undiagnosed mental retardation. (p. 586)  

### American College of Obstetricians and Gynecologists (ACOG)  
ACOG published practice bulletin No. 605 (July 2014, reaffirmed 2021), which states the following:  

“If a woman has a personal or family history of ovarian failure or an elevated follicle-stimulating hormone (FSH) level before age 40 years without a known cause, fragile X premutation carrier testing should be offered”. (p. 194)  

## HEMOGLOBINOPATHY CARRIER SCREENING  

## HBA1, HBA2, or HBB Targeted Variant Analysis  
### American College of Obstetricians and Gynecologists (ACOG)  
ACOG published practice bulletin No. 691 (March 2017, reaffirmed 2023) and following recommendations related to carrier screening (p. 597):  

If an individual is found to be a carrier for a specific condition, the individual’s reproductive partner should be offered testing in order to receive informed genetic counseling about potential reproductive outcomes. Additionally, when an individual is found to be a carrier of a genetic condition, the individual’s relatives are at risk of carrying the same mutation. The patient should be encouraged to inform his or her relatives of the risk and the availability of carrier screening. (p. 597)  

## HBA1, HBA2, or HBB Sequencing and/or Deletion/Duplication Analysis  
### American College of Obstetricians and Gynecologists (ACOG)  
ACOG published a Practice Advisory (2022, reaffirmed 2023), which recommends offering universal hemoglobinopathy testing to individuals who are considering pregnancy or who are currently pregnant (at the initial prenatal visit). The testing may be performed using either hemoglobin electrophoresis or molecular testing, such as expanded carrier screening.  

## Ashkenazi Jewish Carrier Panel Testing  
### American College of Obstetricians and Gynecologists (ACOG)  
ACOG published practice bulletin No. 691 (2017, reaffirmed 2023), which provided carrier screening guidelines in individuals of Eastern and Central European Jewish descent (i.e., Ashkenazi Jewish). Specifically, they made the following recommendations:  
- Cystic fibrosis, Canavan disease, familial dysautonomia, and Tay-Sachs disease carrier screening should be offered to all Ashkenazi Jewish individuals who are pregnant or considering pregnancy  
- Consider carrier screening for Fanconi anemia (Group C), Niemann-Pick (Type A), Bloom syndrome, mucolipidosis IV, glycogen storage disease type I, Joubert syndrome, maple syrup urine disease, Usher syndrome, and Gaucher disease. (p. 11-13)  
- When only one partner is of Ashkenazi Jewish descent, that individual should be offered screening first. If it is determined that this individual is a carrier, the other partner should be offered screening. However, the couple should be informed that the carrier frequency and the detection rate in non-Jewish individuals are unknown for most of these disorders, except for Tay–Sachs disease and cystic fibrosis. Therefore, it is difficult to accurately predict the couple’s risk of having a child with the disorder. (p. 3)  

## DUCHENNE AND BECKER MUSCULAR DYSTROPHY CARRIER SCREENING  
### DMD Targeted Variant Analysis  
#### GeneReviews: Dystrophinopathies  
GeneReviews is an expert-authored review of current literature on a genetic disease and goes through a rigorous editing and peer review process before being published online.  

Per GeneReviews, it is appropriate to evaluate at-risk family members with a female reproductive system (i.e., the sisters or maternal relatives with a female reproductive system of an affected individual with a male reproductive system and first-degree relatives of a known or possible heterozygous individual with a female reproductive system) in order to identify as early as possible heterozygous individuals with a female reproductive system who would benefit from cardiac surveillance. Evaluations can include molecular genetic testing if the DMD pathogenic variant in the family is known.  

### DMD Sequencing and/or Deletion/Duplication Analysis  
#### European Molecular Genetics Quality Network (EMQN)  
EMQN published best practice guidelines for genetic testing in dystrophinopathies (2020), which included the following in regard to carrier testing in those with female reproductive systems:  

“When the familial pathogenic variant is unknown and an affected male is not available to be tested, female relatives at risk of being carriers should be offered the full cohort of level 1 and 2 genetic testing (i.e., CNV analysis and sequencing) since these two approaches are cost effective and offer ~99% sensitivity.” (p. 1147)  

| Reviews, Revisions, and Approvals | Revision Date | Approval Date |  
|----------------------------------|--------------|--------------|  
| Policy developed.                | 03/23        | 03/23        |

CENTENE
Corporation

Concert Genetics Genetic Testing: Prenatal and Preconception Carrier
Screening
V2.2024
Date of Last Revision: 04/24

Reviews, Revisions, and Approvals	Revision Date	Approval Date
Semi-annual review. Updated title to reflect V1.2024 version. Overview, coding, reference-table, background and references updated. Throughout policy: replaced “coverage criteria” with “criteria”. For Overview: removed “Carrier screening may be performed...”; added “The majority of professional societies...”; added “Negative carrier screening results...”. For Policy Reference Table: under Expanded Carrier Screening Panels: removed “81243, 81257, 81329, 81443”; removed “Inherit 500 Plus Panel.”; removed “Comprehensive Carrier.”; removed “GeneSeq...”; “Horizon 14 (Natera)”; removed “Horizon 274 (Natera)”; removed “81329, 81336”; added “CFTR Targeted Variants.”; added “Genomic Carrier.”; added “DMD Targeted Variants.”; removed “81408”; added “81479”; removed “81403”. For Other Related Policies: added “and Molecular”. For Criteria: under Expanded Carrier Screening Panels: I. and II. added “81336, 81405, 81408, 81479”; added “ACMG recommends...”; for BASIC CARRIER SCREENING PANELS (Cystic fibrosis, Spinal Muscular Atrophy, Fragile X, Hemoglobinopathies, not more than 14 genes): removed “81329”; removed “81222, 81223”; removed “should be evaluated.”; added “81329, 81336”; added “81222, 81223”; removed “should be considered.”; for AMN1 Sequencing and/or Deletion/Duplication and SMN2 Deletion/Duplication Analysis: I. and II. added “0236U”; for Ashkenazi Jewish Carrier Panel Testing: C.7. added “type A”; C.8. added “Type I.”; added C.10-C.13...; for Duchenne and Becker Muscular Dystrophy Carrier Screening: I. and II. removed “81408, 81403”; added “81479”; for DMD Sequencing and/or Deletion/Duplication Analysis: I.B. removed “one of the following:”; removed “male”. For Notes and Definitions: removed “Clinical Considerations...”. For Background and Rationale: removed “American College of Medical Genetics...”; removed “ACMG recommends...”; removed “ACMG does not recommend...”; added “Additionally, ACMG recommends...”; added “ACMG does not recommend.”; for Basic Carrier Screening Panels (Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, Hemoglobinopathies, not more than 14 genes): replaced “and” with “includes the”; removed “Fragile X premutation...”; removed “Fragile X premutation carrier...”; for Cystic Fibrosis Carrier Screening: added “Cystic fibrosis carrier screening...”; for CFTR Sequencing and/or Deletion/Duplication Analysis, or Mutation Panel: removed “National Society of Genetic Counselors...”; removed “American College of Obstetricians...”; removed “American College of Medical Genetics...”; for Fragile X Syndrome Carrier Screening: added “reaffirmed in 2020.”; removed “DNA based molecular analysis”; for Duchenne and Becker Muscular Dystrophy Carrier Screening: removed “The recommendation for DMD testing...”; added “Per GeneReviews®”; for DMD Sequencing and/or Deletion/Duplication Analysis: removed “When the familial...”; for General Criteria for Targeted Carrier Screening: removed “Carrier screening is a term...”; removed “National Society of Genetic Counselors...”	10/23	10/23
In the criteria for CFTR Sequencing, Deletion/Duplication Analysis, or Mutation Panel, changed the number of tested variants from 23 to 100 and updated background accordingly, consistent with the 2023 ACMG statement on CFTR variant testing.	01/24	01/24

CENTENE
Corporation

Concert Genetics Genetic Testing: Prenatal and Preconception Carrier
Screening
V2.2024
Date of Last Revision: 04/24

Reviews, Revisions, and Approvals	Revision Date	Approval Date
Semi-annual review. Updated title to reflect V2.2024 version. In HBA1, HBA2, or HBB Sequencing and/or Deletion/Duplication Analysis, updated criteria to align with current ACOG recommendations for universal hemoglobinopathy screening. In General Criteria for Targeted Carrier Screening, moved criteria to policy “Genetic Testing: General Approach to Genetic and Molecular Testing” to align with other general coverage criteria tests. In HBA1, HBA2, or HBB Targeted Variant Analysis, several clinical criteria were removed to better align with Guidelines. In CFTR Targeted Variant Analysis, criteria set name changed (formerly “CFTR Known Familial Variant Analysis”). In Ashkenazi Jewish Carrier Panel Testing, genes added to disease names in list for consistency and to provide further clarity. Professional society corrected from ACMG to ACOG. In Expanded Carrier Screening Panels, added note with clarifying language to indicate that if 81243 is billed with 81443, the patient should still meet Fragile X criteria. In FMR1 Repeat Analysis, added note with clarifying language to indicate that if 81243 is billed with 81443, the patient should still meet Fragile X criteria. In HBA1, HBA2, or HBB Sequencing and/or Deletion/Duplication Analysis, Added clarifying information in the “investigational” statement that this testing does not include fetal hemoglobin testing via circulation fetal DNA. Minor rewording for clarity throughout. Coding, reference-table, background and references updated.	04/24	04/24

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