HD DTekt™ Kit v1

Huntington’s disease (HD) is a progressive neurological disorder that leads to mobility, cognitive, and psychiatric disturbances, and its inheritance is predominantly autosomal. This disease is diagnosed in the laboratory based on the number of CAG repeats. The first symptoms usually appear between the ages of 35 and 50 and typically last between 15 and 20 years. A small number of cases have been observed before the age of 20 (juvenile onset), and about 25% of cases have been observed after the age of 50.

The HD DTekt™ Kit v1 is designed to accurately determine the number of CAG repeats in natural and damaged DNA samples. This kit allows the user to determine the number of repeats for screening carriers and confirming affected individuals.

This disease is caused by the expansion of an unstable polymorphic trinucleotide (CAG) located in the untranslated 5′ region of the HTT gene exon 1. Alleles with fewer than 26 CAG repeats are considered normal individuals. Repeats between 27 and 35 (referred to as mutable normal or intermediate alleles) are not associated with disease symptoms and are recognized as individuals susceptible to Huntington’s disease, as they can transmit the disease to the next generation through germ cells, while alleles with more than 40 repeats are identified as affected individuals, and the severity of the disease varies depending on the number of repeats. Repeats between 36-39 CAG can be observed in affected individuals or individuals showing clinical symptoms at older ages (70-80 years). The number of CAG repeats is inversely related to the average age of symptom onset.