Highmark Commercial Medical Policy - Pennsylvania

Medical Policy: L-169-006
Topic: Ataxia-Telangiectasia
Section: Laboratory
Effective Date: July 1, 2018
Issue Date: July 2, 2018
Last Reviewed: March 2018

Ataxia-telangiectasia (A-T) is a progressive neurological disorder caused by mutations in the ATM gene. Onset is typically between the ages of 1 and 4 years. ATM has been implicated as causing an increased risk for breast cancer, especially in women with a strong family history of breast cancer. Epidemiological data has also suggested an increased risk for cardiovascular disease in carriers as well. Therefore, carriers of ATM mutant alleles may need to be screened for breast cancer and cardiovascular disease.

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.

ATM Known Familial Mutation Analysis may be considered medically necessary when the following criteria have been met:

Procedure Codes

ATM Sequencing may be considered medically necessary when the following criteria have been met:

Procedure Codes

ATM Duplication/Deletion Analysis may be considered medically necessary when the following criteria have been met:

Procedure Codes

Professional Statements and Societal Positions

The Eighth International Workshop on Ataxia-Telangiectasia was convened in 1999. The workshop described ATM mutations and cancer risk in heterozygotes, and potential therapeutic approaches. Genetic testing strategies were not described.

Genetic testing is indicated to confirm a diagnosis in anyone who meets clinical criteria for A-T. Individuals meeting clinical criteria for A-T testing will undergo sequence analysis. Deletion/duplication testing is offered to those meeting the criteria and have tested negative through sequence analysis. Additionally, genetic testing is approved to determine the carrier status in an at risk relative with a known family mutation. Individuals with a family member with a known A-T mutation(s) should be tested for that/those mutation(s). 

Place of Service: Outpatient

ATM analysis 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.