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| Medical Policy: | L-188-004 |
| Topic: | Huntington Disease Testing |
| Section: | Laboratory |
| Effective Date: | November 13, 2017 |
| Issue Date: | November 13, 2017 |
| Last Reviewed: | June 2017 |
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder causing progressive cognitive, motor, and psychiatric disturbances. Testing for Huntington disease is performed by determining the number of CAG repeats in the HTT 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. |
Testing for HD may be considered medically necessary when the following criteria are met:
- Clinical Consultation:
- Pre and post-test genetic counseling by an appropriate; and
- Examination by a geneticist or physician familiar with genetic movement disorders; and
- Previous Genetic Testing:
- No previous genetic testing of HTT; or
- Diagnostic Testing for Symptomatic Individuals:
- For individuals greater than or equal to 18 years:(at least 2 of the following)
- Progressive motor disability featuring involuntary movements (chorea) and gait disturbance; and/or
- Behavioral disturbances including:
- Personality change
- Depression
- Cognitive decline; and/or
- Family History of Huntington’s Disease
- For individuals less than or equal to 17 years: (at least 2 of the following)
- Progressive motor disability featuring involuntary movements (chorea) and gait disturbance; and/or
- Cognitive decline; and/or
- Stiffness or rigidity; and/or
- Epilepsy/myoclonus and tremor; and/or
- Family History of Huntington’s disease; or
- Predictive Testing for Presymptomatic/Asymptomatic At-Risk Individuals*:
- Known CAG trinucleotide repeat expansion in HTT in 1st, 2nd, or 3rd degree biologic relative; or
- One or more 1st degree biologic relative(s) with clinical diagnosis of HD and mutation unknown/not yet tested; and
- 18 or older.
*Includes prenatal testing for at-risk pregnancies.
| Professional Statements and Societal Positions |
The United States Huntington's Disease Genetic Testing Group (2003) has guidelines regarding genetic testing for Huntington disease. Symptomatic testing: "Confirmatory testing by analysis of the HD gene may be offered at or after the time of the clinical diagnosis of HD. The presence of a CAG repeat expansion in a person with HD symptoms confirms the clinical impression and supports a diagnosis of HD." Asymptomatic (predictive) testing is supported in the context of a predictive testing protocol that includes optional neurological exam, psychological exam, social support, pre- and post-test counseling regarding implications of positive and negative test results, and documented informed consent. The predictive testing protocol is also supported by guidelines from the International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea (1994), the American College of Medical Genetics, and the National Society of Genetic Counselors, as well as recent literature. |
| Place of Service: Outpatient |
HD 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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