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Huntington Disease

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. The gene-specific PCR product can be visualised using fragment analysis on the 3130. Genetic Analyser. Results are compared with controls with known repeat sizes.
A small proportion of cases will require further testing which is not offered at WRGL and samples will be forwarded to another laboratory if additional testing is required/necessary.

Cost, Sample Requirements & Turnaround Times

Test

Cost NZD*

Sample Requirements

Current TAT

Huntington PCR $203 4 ml of whole blood in EDTA
(purple top)
2 weeks
For urgent cases please contact the laboratory


*No direct charge for the central region DHBs covered by the Crown Funding Agreement

Huntington Disease Testing

ABOUT US

Wellington Regional Genetics Laboratory (WRGL) provides a comprehensive, integrated diagnostic cytogenetic and molecular genetic testing service

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CONTACT US

(04) 918-5352
wrgl@ccdhb.org.nz