Test Entry - Detail

Huntington's Disease Genetic Testing

General

Clinical Use:

Huntington's Disease (HD) is an adult-onset neurodegenerative disorder characterised by choriform movements, cognitive loss and psychiatric disturbances. Although the biochemical basis of the disease is unknown, there is a definitive link between clinical symptoms of HD and a mutation in the Huntington gene. This mutation, an insertion of additional "CAG" repeats in a CAG repeat region, results in an expansion of the Huntington gene. The size of this expansion directly correlates to the age of onset and severity of disease. HD testing is offered as a diagnostic test to support symptomatic diagnosis of HD, as well as a predictive test when a patient is referred for testing through genetic services.

Availability:

Samples are tested routinely during the testing laboratory's hours of operation.
Patient must be referred by Genetic Services of WA: (08) 64581525.
Prenatal diagnosis must be arranged prior - please contact laboratory well in advance of sample collection date.
Molecular Genetics reports are issued in hardcopy to requesting doctor only.

Aliases/Synonyms:

HD,

Code:

GHUND

Handling Instructions (to laboratory):

Send sample ambient.

Hyperlink:

Reference Interval:

Not Applicable

Collection Requirements

Container:

EDTA (LAVENDER),

Sample Type:

See container

Minimum Collection Volume:

4mL

Collection Instructions:

Non-medicare rebateable item. Please contact testing laboratory for current pricing.

Processing Requirements

Alternate Containers:

Processing Instructions:

Store sample at room temperature.
Do not centrifuge sample.

Minimum Assay Volume:

4mL

Stability:

72 hours ambient; Indefinitely once extracted and frozen

Transport Instructions (to testing laboratory):

Send sample ambient.

Testing Locations

Performed at:

Section	Department	Site	Contact Phone
Molecular Genetics	Diagnostic Genomics	QEII Medical Centre	6383 4243

Last Updated : 03-08-2023 13:38