Diagnostic testing requires referral through Genetic Services or Neurology. Except for Juvenile HD or pregnancy related cases which should be referred only through Genetic Services.
All predictive and presymptomatic testing only through Genetic Services.
Genetic Health Service NZ can be contacted on 0800 476 123.
Neurology can be contacted on (09) 307 4949 ext. 25662.
Specimen Collection 4 mL Paediatric EDTA Blood (Preferred)
For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
8 mL Adult EDTA Blood Turnaround Time: Within 6 weeks Contact Information
Contact Molecular Genetics via:
Lablink ext 22000
Mark Greenslade (Technical Head) ext 22010
Pippa Grainger (Section leader) ext 22014
Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years and the median survival time is 15 to 18 years after onset.
The diagnosis of HD rests on positive family history, characteristic clinical findings, and the detection of an expansion of CAG trinucleotide repeats in the HD gene.
For more information about the Molecular Genetics service:
Molecular Genetics information page