Huntington Disease (HD)

Background

Abnormal expansions of the CAG repeat in exon 1 of the Huntingtin (HTT) gene on chromosome 4 (at 4p16.3) are associated with Huntington disease. Determination of the number of CAG trinucleotide repeats is routinely used in diagnostic and predictive testing of individuals symptomatic or at risk for HD. The frequency of HD is estimated to be 3-10 in 100,000 in populations of Western European descent.

Testing at WRGL

Polymerase Chain Reaction (PCR) using a variety of primers is used to determine the number of CAG repeats in the Huntingtin gene (HTT). The gene-specific PCR product can be visualised using fragment analysis on the 3500XL Genetic Analyser. Results are compared with controls with known repeat sizes.
 

Cost, Sample Requirements & Turnaround Times