Highmark Commercial Medical Policy - Pennsylvania
Medical Policy: L-175-004
Topic: Early Onset Familial Alzheimer Disease (EOFAD) Genetic Testing
Section: Laboratory
Effective Date: November 13, 2017
Issue Date: November 13, 2017
Last Reviewed: March 2017

There are three subtypes of EAFOD APP, PSEN1, or PSEN2 gene; sequence analysis is available for each gene individually or as panel.

Among families with EOFAD, 40-80% will have a detectable mutation in the APP, PSEN1, or PSEN2 gene.

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.

Early Onset Familial Alzheimer Disease (EOFAD) Genetic Testing may be considered medically necessary when all clinical criteria have been met.

PSEN1, PSEN2, or APP Known Familial Mutation Testing

Procedure Codes
81403, 81405, 81406


PSEN1 Full Sequence and Deletion/Duplication Analysis

Procedure Codes
81479


APP Sequence and Deletion/Duplication Analysis

Procedure Codes
81479


PSEN2 Full Sequence Analysis

Procedure Codes
81406

Professional Statements and Societal Positions

The Amyloid Imaging Task Force, Society of Nuclear Medicine and Molecular Imaging, and the Alzheimer’s Association (2013) reference genetic testing in their recommendations:

  • "The use of amyloid PET in lieu of genotyping for suspected autosomal dominant mutation carriers is considered inappropriate. The optimal clinical evaluation in these cases is careful collection of a family history, followed (if appropriate) by genetic counseling prior to and after genetic testing for known mutations. Future use of amyloid PET in autosomal dominant mutation carriers could include determination of whether the amyloid deposition phase of their illness has begun. In the setting of a complete clinical evaluation, including serial neuropsychological testing, this information may be useful in identifying one disease-related milestone that, along with the genetic information, aids decision making.”
  • A 2012 expert-authored review states that:
    • "EOFAD is diagnosed in families with multiple affected individuals with mean age of onset before 65 years and/or with a documented disease causing mutation in one of the genes known to be associated with EOFAD."
    • "Establishing the diagnosis in a proband requires molecular genetic testing to identify a disease-causing mutation in one of the three genes known to be associated with EOFAD."
    • "Predictive testing for at-risk asymptomatic adult family members requires prior identification of the disease-causing mutation in the family."

American College of Medical Genetics and The National Society of Genetic Counselors (2011):
"Testing for genes associated with early-onset autosomal dominant AD should be offered in the following situations:

  • A symptomatic individual with EOAD in the setting of a family history of dementia or in the setting of an unknown family history (e.g., adoption).
  • Autosomal dominant family history of dementia with one or more cases of EOAD.
  • A relative with a mutation consistent with EOAD.

The European Federation of Neurological Societies (2010) Alzheimer's diagnosis and management guidelines address genetic testing:

  • "Screening for known pathogenic mutations can be undertaken in patients with appropriate phenotype or a family history of an autosomal dominant dementia." (No evidence level assigned.) They add, "Testing of patients with familial dementia and of unaffected at-risk-relatives should be accompanied by neurogenetic counseling and undertaken only after full consent and by specialist centers. Pre-symptomatic testing may be performed in at risk member of family-carrying mutation. It is recommended that the Huntington’s disease protocol is followed for presymptomatic testing."

Place of Service: Outpatient

Early Onset Familial Alzheimer Disease (EOFAD) Genetic 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.

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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.

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