Huntington Disease
Huntington disease is a genetic progressive neurological condition that is suspected clinically in the presence of progressive motor disability, mental disturbances (cognitive decline, changes in personality or depression) and family history consistent with autosomal dominant inheritance. Most individuals with Huntington disease begin to exhibit symptoms at around 35 to 44 years of age.
There is a single gene, HTT that is known to be associated with Huntington disease. Expansion of the trinucleotide CAG repeat in the beginning of the gene is causative of this condition. Molecular genetic testing of the HTT gene is available at Genetics Center.
Reasons for Referral
Asymptomatic at-risk adults with a family history of Huntington disease who are interested in predictive testing.
Symptomatic adults to confirm a suspected clinical diagnosis.
Prenatal diagnosis in which one parent is known to be affected or carry a expanded HTT allele.
Testing is not recommended for:
Asymptomatic at-risk individuals younger than 18 years of age for predictive testing.
Requirement prior to testing
Prior to requesting Huntington disease testing, genetic counseling is strongly recommended for patients in order to discuss testing and potential results, and is available through our center. Please contact us at 714-288-3500 to refer a patient for counseling.
Or
We can perform testing if the referring physician completes and signs our consent form for genetic testing for Huntington Disease.
Required Forms for Testing Only
Turn Around Time
7 days or fewer
Specimen Requirements and Shipping/Handling
Please contact Genetics Center at (714)288-3500, Option 2, to refer a patient for counseling or to inquire about testing.