Highmark Commercial Medical Policy - Pennsylvania

Medical Policy: L-126-006
Topic: Fragile X Syndrome Testing
Section: Laboratory
Effective Date: July 1, 2018
Issue Date: July 2, 2018
Last Reviewed: March 2018

Fragile X syndrome is the most common cause of inherited intellectual disability affecting approximately 1 in 4,000 males and 1 in 8,000 females. Because the mutation is on the X-chromosome, males tend to be more often and more severely affected than females.

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.

Targeted Mutation Analysis for CGG Trinucleotide Repeat Expansion in FMR1 may be considered medically necessary when the following specific criteria are met:

Procedure Codes
81243



Methylation Analysis may be considered medically necessary when the following specific criteria are met:

Procedure Codes
81244



* Note: CVS must be interpreted with caution. The number of CGG repeats in the fetus can be accurately determined; however, often the methylation status of FMR1 is not yet established in chorionic villi at the time of sampling. CVS results may lead to a situation in which follow-up amniocentesis is necessary to resolve an ambiguous result.

Professional Statements and Societal Positions

Consensus guidelines from the American Academy of Pediatrics (AAP, 2011) that address health supervision of fragile X syndrome:

  • Because children with fragile X syndrome may not have apparent physical features, any child who presents with developmental delay, borderline intellectual abilities, or mental retardation or has a diagnosis of autism without a specific etiology should undergo molecular testing for fragile X syndrome to determine the number of CGG repeats...Fragile X testing should also be considered in patients in whom there is suspected, but not molecularly proven, Sotos syndrome or Prader-Willi syndrome. On the other hand, fragile X testing, is not routinely warranted for children with isolated attention-deficit/hyperactivity disorder.

Practice guidelines from the American College of Medical Genetics (ACMG, 2005) recommend diagnostic testing for fragile X syndrome for Individuals of either sex with mental retardation, developmental delay, or autism, especially if they have (a) any physical or behavioral characteristics of fragile X syndrome, (b) a family history of fragile X syndrome, or (c) male or female relatives with undiagnosed mental retardation.

Practice guidelines from the American College of Medical Genetics (ACMG, 2005) and the American College of Obstetricians and Gynecologists (ACOG, 2010) support carrier screening for fragile X syndrome:

  • ACMG: Individuals seeking reproductive counseling who have (a) a family history of fragile X syndrome or (b) a family history of undiagnosed mental retardation.
  • ACOG: Women with a family history of fragile X-related disorders, unexplained mental retardation or developmental delay, autism, or premature ovarian insufficiency are candidates for genetic counseling and fragile X premutation carrier screening.

Practice guidelines from the American College of Medical Genetics (ACMG, 2005) and the American College of Obstetricians and Gynecologists (ACOG, 2010) support prenatal screening for fragile X syndrome:

  • ACMG states that fragile X testing is appropriate in Fetuses of known carrier mothers.
  • ACOG: Prenatal testing for fragile X syndrome by amniocentesis or CVS should be offered to known carriers of the fragile X premutation or full mutation. Although amniocentesis and CVS are reliable for determining the number of triplet repeats, CVS may not adequately determine the methylation status of the FMR1 gene.

Place of Service: Outpatient

Fragile X syndrome testing 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.

A network provider can bill the member for the non-covered service.

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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: 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.

Insurance or benefit/claims administration may be provided by Highmark, Highmark Choice Company, Highmark Coverage Advantage, Highmark Health Insurance Company, First Priority Life Insurance Company, First Priority Health, Highmark Benefits Group, Highmark Select Resources, Highmark Senior Solutions Company or Highmark Senior Health Company, all of which are independent licensees of the Blue Cross and Blue Shield Association, an association of independent Blue Cross and Blue Shield plans.

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.