Huntington’s Disease (Blood)

Testing Laboratory

Department

Diagnostic Genetics

Delphic Registration Code (Alpha Code)

DNAT

Test Code (Numeric Code)

7933

Laboratory Handling

Sample Stability

Transport all bloods between 8 degrees to 24 degrees Celsius to the laboratory within 24-48 hours.

Synonyms

HD

Turnaround Time

6 weeks

Urgent TAT for prenatal analysis: 2 weeks

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

0.5

Pre-testing Requirements

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.

Contacts:

Genetic Health Service NZ can be contacted on 0800 476 123.

Neurology can be contacted on (09) 307 4949 ext. 25662.

Additional Specimen Information

For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)

For testing of other sample types please contact the laboratory prior to sending.

Test Method

PCR-based amplification and subsequent fluorescence-based capillary electrophoresis is used to detect CAG repeat expansions within the Huntingtin (HTT) gene - NM_001388492.1. A Triplet-repeat Primed (TP) PCR amplification and subsequent fluorescence-based capillary electrophoresis were used to detect all sizes of expansion within the HTT gene. Due to the nature of the assay, we estimate that the CAG repeat allele sizing is correct to plus or minus one repeat for alleles ?40 repeats and up to plus or minus two for alleles >40 repeats.

Contact Information