Highmark Commercial Medical Policy - Pennsylvania

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Medical Policy: L-183-004
Topic: Expanded Carrier Screening Panels
Section: Laboratory
Effective Date: November 13, 2017
Issue Date: November 13, 2017
Last Reviewed: June 2017

Expanded carrier screening panels are designed to identify carrier status or predict risk for many genetic diseases (70 or more) in a single test.

It is typically offered to patients planning a pregnancy or currently pregnant. The genetic diseases that are tested for range in severity from lethal in infancy to so mild an affected individual may never develop symptoms. Some conditions are quite common, especially in certain ethnic groups, while others are rare.

This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.

Policy Position Coverage is subject to the specific terms of the member’s benefit plan.

Expanded Carrier Screening Panels may be considered medically necessary when the following criteria have been met.

Individual gene tests included in expanded carrier screening panels that will be separately billed should be covered based on the medical necessity criteria for each gene test. Any gene tests that are separately billed and do NOT meet medical necessity criteria are not a reimbursable service. It will be at the laboratory, provider, and patient’s discretion to determine if a multi-gene panel remains the preferred testing option, recognizing that only a portion of the panel may be reimbursed by insurance. 

See Table 1 below for policy guidance around the most commonly performed carrier screening tests. This table includes the test types addressed by population-based carrier screening guidelines. 

When the test is not addressed in Table 1, refer to the general policy: L-107, Genetic Testing for Carrier Status. For these additional tests to be medically necessary, there will generally need to be a specific known increased risk for that condition such as a known family history or a reproductive partner who is known to be a carrier of or affected with the condition. 

Table 1 

Pan-Ethnic Conditions


CPT code

Cystic fibrosis









Spinal muscular atrophy



Fragile X syndrome






Ashkenazi Jewish genetic

disorders *



Bloom syndrome



Canavan disease




dehydrogenase deficiency



Familial dysautonomia



Familial hyperinsulinism



Fanconi anemia, type C



Gaucher disease, type 1



Glycogen storage disease,

type 1A



Joubert syndrome, type 2



Maple syrup disease, type




Mucolipidosis, type IV



Nemaline myopathy, type 2




Niemann-Pick disease,

type A



Tay-Sachs disease



Usher syndrome, type 1F



Usher syndrome, type 3










Sickle cell anemia,









Alpha thalassemia       









* The single Ashkenazi Jewish Carrier Screening policy should be sufficient to assess the appropriateness of all tests in this category in most circumstances. The available individual gene test policies are provided should additional information be useful.

Procedure Codes
81611, 81200, 81205, 81209, 81220, 81222, 81223, 81242, 81243, 81244, 81250, 81251, 81252, 81254, 81255, 81257, 81260, 81290, 81330, 81332, 81412, 83020, 81400, 81401, 81402, 81403, 81404, 81405, 81406, 81407, 81408, 81479

Refer to the following medical policies for additional information:

  • L-34    Ashkenazi Jewish Carrier Screening
  • L-107 Genetic Testing for Carrier Status
  • L-134  Ashkenazi Jewish Founder Mutation Testing
  • L-137  Canavan Disease Testing
  • L-143   Niemann-Pick Disease type A & B Testing
  • L-144   Tay-Sachs Disease Testing
  • L-166   Spinal Muscular Atrophy Testing
  • L-187  Bloom Syndrome Testing

Professional Statements and Societal Positions

No evidence-based guidelines have addressed simultaneous carrier screening for a large number of disorders.

The American College of Medical Genetics and Genomics (ACMG; 2013) published a position statement on prenatal/preconception carrier screening. This statement did not provide evidence-based guidance for specific tests or conditions. Rather, it provides general considerations for disease inclusion, clinical relevance, laboratory performance, reporting, and genetic counseling.

Current guidelines from the American College of Obstetrics and Gynecology (ACOG) and/or the American College of Medical Genetics (ACMG) only address 12 of the genetic conditions included in available expanded carrier screening panels:

  • Ashkenazi Jewish genetic disorders:
    • Bloom syndrome
    • Canavan disease
    • Cystic fibrosis
    • Familial dysautonomia
    • Fanconi anemia type C
    • Gaucher disease
    • Mucolipidosis IV
    • Niemann-Pick disease type A
    • Tay-Sachs disease
  • Beta-thalassemia
  • Cystic fibrosis
  • Sickle cell disease
  • Spinal muscular atrophy
  • Although large panels may be less expensive than doing each carrier screening test individually, most of the included tests are not indicated for each person being tested. Issues with expanded carrier screening include:
    • Many included tests have not been recommended for population based carrier screening and should therefore only be performed when there is a specific known increased risk, such as a family history of the condition.
    • Some conditions included in expanded carrier screens are exceedingly rare except in certain ethnicities.
    • Mutation analysis may not be the preferred initial screening test for some conditions. For example, a CBC with RBC indices is the initial screening test for beta-thalassemia followed by hemoglobin analysis for individuals with microcytic anemia. Measuring hexosaminidase A activity may be preferable to mutation analysis for Tay-Sachs carrier screening, especially in non-Jewish populations.
    • Some expanded carrier screens include testing for conditions that are relatively mild, treatable, or have onset in adulthood.
    • Depending on ethnicity, currently expanded carrier screening panels are expected to identify up to 40% of people tested as carriers of a recessive gene mutations. Therefore, if this screening is routinely offered, many patients will require counseling for a positive result, and partner testing must be offered. The most complete partner testing is often by full gene sequencing. Availability of partner testing, cost, turnaround time, and the possibility of identifying a variant of unknown significance by sequencing make this a complex clinical scenario to manage in the routine reproductive setting.

Place of Service: Outpatient

An expanded carrier screening panel is typically an outpatient procedure which is only eligible for coverage as an inpatient procedure in special circumstances, including, but not limited to, the presence of a co-morbid condition that would require monitoring in a more controlled environment such as the inpatient setting.

The policy position applies to all commercial lines of business

Denial Statements

Services that do not meet the criteria of this policy will not be considered medically necessary. A network provider cannot bill the member for the denied service unless: (a) the provider has given advance written notice, informing the member that the service may be deemed not medically necessary; (b) the member is provided with an estimate of the cost; and (c) the member agrees in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.


Medical policies do not constitute medical advice, nor are they intended to govern the practice of medicine. They are intended to reflect Highmark's reimbursement and coverage guidelines. Coverage for services may vary for individual members, based on the terms of the benefit contract.

Discrimination is Against the Law
The Claims Administrator/Insurer complies with applicable Federal civil rights laws and does not discriminate on the basis of race, color, national origin, age, disability, or sex. The Claims Administrator/Insurer does not exclude people or treat them differently because of race, color, national origin, age, disability, or sex. The Claims Administrator/ Insurer:
  • Provides free aids and services to people with disabilities to communicate effectively with us, such as:
    • Qualified sign language interpreters
    • Written information in other formats (large print, audio, accessible electronic formats, other formats)
  • Provides free language services to people whose primary language is not English, such as:
    • Qualified interpreters
    • Information written in other languages
If you need these services, contact the Civil Rights Coordinator.

If you believe that the Claims Administrator/Insurer has failed to provide these services or discriminated in another way on the basis of race, color, national origin, age, disability, or sex, you can file a grievance with: Civil Rights Coordinator, P.O. Box 22492, Pittsburgh, PA 15222, Phone: 1-866-286-8295, TTY: 711, Fax: 412-544-2475, email: CivilRightsCoordinator@highmarkhealth.org. You can file a grievance in person or by mail, fax, or email. If you need help filing a grievance, the Civil Rights Coordinator is available to help you.

You can also file a civil rights complaint with the U.S. Department of Health and Human Services, Office for Civil Rights electronically through the Office for Civil Rights Complaint Portal, available at https://ocrportal.hhs.gov/ocr/portal/lobby.jsf, or by mail or phone at:

U.S. Department of Health and Human Services
200 Independence Avenue, SW
Room 509F, HHH Building
Washington, D.C. 20201
1-800-368-1019, 800-537-7697 (TDD)

Complaint forms are available at http://www.hhs.gov/ocr/office/file/index.html.

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Highmark retains the right to review and update its medical policy guidelines at its sole discretion. These guidelines are the proprietary information of Highmark. Any sale, copying or dissemination of the medical policies is prohibited; however, limited copying of medical policies is permitted for individual use.

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