HUNTINGTON DISEASE MOLECULAR ANALYSIS, EDTA BLOOD

This is a genetic test used to diagnose Huntington’s disease, a progressive, inherited neurodegenerative disorder. The test identifies abnormal expansions in the CAG trinucleotide repeat within the HTT gene on chromosome 4. It helps confirm a clinical diagnosis and can also be used for predictive testing in at-risk individuals.

Since Huntington’s is inherited in an autosomal dominant pattern, children of an affected parent have a 50% chance of inheriting the mutation. This test provides conclusive evidence of whether an individual carries the gene, allowing for informed decisions regarding life planning, reproductive options, and medical care.

 It is advised for individuals who exhibit characteristic symptoms such as chorea (involuntary movements), personality changes, and cognitive decline, or those with a known family history. It can also be offered as a prenatal or pre-symptomatic test with proper counseling.

 Results showing more than 36 CAG repeats confirm the presence of the mutated gene. A higher number of repeats often correlates with earlier onset and more severe progression. Fewer than 27 repeats are considered normal, while intermediate ranges may not cause disease but could expand in the next generation.

Yes, due to its implications for the patient and family, genetic counseling is essential before and after the test to support informed decision-making and emotional well-being.