In 1993, the specific genetic defect responsible for Huntington’s disease was discovered. The mutation is located on the fourth chromosome and consists of an abnormally expanded sequence of trinucleotide CAG repeats in the genetic code. As a result of this discovery, a blood test is now available which can determine if the abnormal gene is present. Thus it is possible to make a definitive diagnosis of Huntington’s disease in individuals who have signs and symptoms suggestive of this disorder. It is also possible to test for the presence of the abnormal gene in family members of affected individuals who are at risk for inheriting Huntington’s disease (predictive testing).
Huntington’s disease is an incurable neurodegenerative disorder which ultimately causes severe neurological, psychiatric and cognitive dysfunction and disability. Thus, making a diagnosis can potentially result in severe psychological, social, legal, financial and medical consequences. As a result, specific guidelines for such testing have been detailed in separate publications by the Huntington’s Disease Society of America (HDSA) in 1994 and in a separate collaborative effort by the World Federation of Neurology (WFN) research group on Huntington’s chorea and the International Huntington Association (IHA).
In accordance with these guidelines, Albany Medical Center has offered a comprehensive gene testing program for Huntington’s disease since 1995. This program is a collaborative effort combining the departments of Genetics, Neurology, Psychiatry, Social Services and Speech Therapy. The Parkinson’s Disease and Movement Disorders Center comprise the neurological arm of this effort.
To help ensure the safety of the testing process, appropriate candidates can expect to receive genetic counseling, neurological and psychiatric evaluation prior to testing. Test results are given in person as part of a follow-up office visit with the genetic counselors. Issues regarding patient confidentiality will be respected in all phases of the testing program and by all individuals involved in the testing process. In accordance with published guidelines presymptomatic genetic testing is not available to minors.
Individuals interested in genetic testing for Huntington’s disease should contact the Program Coordinator, Julie Lundberg, MS, CGC in the Division of Genetics (Department of Pediatrics) at (518) 262-5120.