Genetic Tests

Lab	Molecular Genetics Laboratory (Haematology) Pathology Queensland QLD
Test Name	Ataxia gene analyses
Genes tested	ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A FXN
Test Description	Autosomal dominant spinocerebellar ataxia CAG/polyglutamine size determination in specific genes. AKA DRPLA, SCA1, SCA2, SCA3, SCA6 and SCA7. Includes autosomal recessive Friedreich ataxia intronic polyGAA sizes determination in frataxin gene. Usually referred by a neurologist or a clinical genetics. Approval for other practitioners is usually required
Method Type	specific assay/s
Method Comment	PCR and fragment analysis to determine number of triplet repeats
Sample Required	2x 4mL of EDTA whole blood RCPA guideline re sample requirements
Turn around	4 weeks

The following information is provided and updated from time to time by laboratories providing genetic testing. The list of laboratories is not an exhaustive list of the laboratories that provide such testing. Links to a third party website are provided for convenience only. The Royal College of Pathologists of Australasia (RCPA) accepts no responsibility for, and makes no representation concerning, the accuracy, appropriateness, and completeness of the information contained on the following pages or on any linked websites. The RCPA does not provide any direct or implied endorsement of the tests or laboratories listed, and accepts no responsibility for the information provided. The RCPA recommends that all medical testing be performed in an accredited laboratory, and emphasises that the listing of a test or laboratory on this page does not imply that it has been accredited by NATA/RCPA or any other organisation. Users of this information should seek expert professional advice before making any decisions based on this information. Please note that charges may apply for gene tests; enquiries about charges should be made to the laboratory to which a sample is to be referred prior to referral. Users access the linked websites at their own risk.

The Rotal College of Pathologists of Australia