A member asked:
Disclaimer

Is the genetic test for huntington’s disease 100% accurate? My grandmother had huntington’s, and my mother was having what she thought were symptoms, so she got tested. The test was negative. Can we be completely she doesn’t have it, which means i don’t e

1 doctor answer
Dr. Herbert Krob
28 years experience in Neurology
Huntington's : Huntington's disease is a complicated neurodegenerative disorder that can cause involuntary writhing, dance-like movements of the limbs, other abnormal movements, personality changes and psychiatric symptoms, heart disease and other problems. It is an uncommon condition (about 5-10 cases per 100000 people). Huntington's disease is caused by a mutation in the huntingtin gene. Inside this gene is a stretch of dna that consists of repeating sequences the genetic code letters, or nucelotides, c, a, and g. These three nucleotides can be repeated (cagcagcag...) dozens of times. The number of "trinucleotide repeats" seems to determine if and when the disease will make itself known. People with less than 28 repeats are normal. People with 28 to 35 repeats are "intermediate". People with 35 to 40 repeats may or may not develop huntington's disease. People with more than 40 repeats will be affected, and the higher the number of repeats, the earlier the disease starts. Gene tests for huntington's disease are not usually reported as "positive" or "negative". They usually report the number of trinucleotide repeats that are present. It is not common for children of people with a normal number of repeats to spontaneously develop huntington's disease.
Answered on Oct 3, 2016
2
2 thanks

90,000 U.S. doctors in 147 specialties are here to answer your questions or offer you advice, prescriptions, and more. Get help now:

Ask doctors free
Personalized answers
Free
Talk to a doctor
Unlimited visits
$10/month

Related questions:

A 72-year-old female asked:
Dr. Richard Roberts
45 years experience in Pediatrics
Apply now for Life: The Genetic Information Nondiscrimination Act of 2008 prohibits health insurers or employers with more than 15 employees from discrimination based on ... Read More
1
1 comment
1
1 thank
A member asked:
Dr. Herbert Krob
28 years experience in Neurology
Doctors : Doctors who recommend genetic tests, such as a test for huntington's disease, should not do so without providing thorough counseling, including provid ... Read More
1
1 comment
5
5 thanks
A 62-year-old member asked:
Dr. Ira Salafsky
55 years experience in Clinical Genetics
Yes: Pre-symptomatic testing is available through mutational analysis of the gene. It is not recommended in children until they can give meaningful informe ... Read More
1
1 comment
2
2 thanks
A 49-year-old member asked:
Dr. Reza Karimi
15 years experience in Neurosurgery
They can: The children of affected people can inherit this disease from their parents. A genetic screening should be done.

90,000 U.S. doctors in 147 specialties are here to answer your questions or offer you advice, prescriptions, and more. Get help now:

Ask doctors free
Personalized answers
Free
Talk to a doctor
Unlimited visits
$10/month