Highmark Commercial Medical Policy - Pennsylvania

Medical Policy: L-174-006
Topic: Duchenne & Becker Muscular Dystrophy Testing
Section: Laboratory
Effective Date: July 1, 2018
Issue Date: July 2, 2018
Last Reviewed: March 2018

Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder affecting 1 in 3500 boys. It is typically diagnosed by age 5. Genetic testing confirms a clinical diagnosis in affected males.Although this is an X-linked disorder, some females may exhibit symptoms, and some carriers may develop related symptoms.

Becker muscular dystrophy (BMD) is a similar disorder caused by the same gene that has a later age of onset and is less common than DMD.

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.

DMD & BMD testing may be considered medically necessary when the following clinical criteria have been met.

DMD Known Familial Mutation Analysis

Procedure Codes

DMD Deletion/Duplication Analysis

Procedure Codes

DMD Sequencing

Procedure Codes

Professional Statements and Societal Positions

The Centers for Disease Control and Prevention (CDC) selected the Care Considerations Working Group (2010) to create guidelines for diagnosis and management of DMD:

  • "Testing for a DMD mutation in a blood sample is always necessary even if DMD is first confirmed by the absence of dystrophin protein expression on muscle biopsy. The results of genetic testing provide the clinical information required for genetic counseling, prenatal diagnosis, and consideration for future mutation-specific therapies."
  • "If deletion/duplication testing is negative, then dystrophin gene sequencing should be done to look for point mutations or small deletions/insertions."
  • "Full characterization of the mutation (deletion endpoints or exact position of any point mutation) is required to allow correlation of the predicted effect of the mutation on the reading frame of the gene, which is the major determinant of the phenotypic variability seen in dystrophinopathy, as well as to determine eligibility for the mutation-specific treatments currently in trials.

American Academy of Pediatrics (AAP, 2005 reaffirmed 2008) guidelines on cardiac care address screening for DMD/BMD carriers.

  • "Carriers of DMD or BMD should be made aware of the risk of developing cardiomyopathy and educated about the signs and symptoms of heart failure."
  • "Carriers of DMD or BMD should be referred for evaluation by a cardiac specialist with experience in the treatment of heart failure and/or neuromuscular disorders. Patients should undergo initial complete cardiac evaluation in late adolescence or early adulthood or at the onset of cardiac signs and symptoms, if these signs or symptoms appear earlier."
  • "Carriers should be screened with a complete cardiac evaluation at a minimum of every 5 years starting at 25 to 30 years of age."
  • "Treatment of cardiac disease is similar to that outlined for boys with DMD or BMD."

Place of Service: Outpatient

DMD & BMD 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.


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.