Genetic Tests

Lab	Neuromuscular Diagnostic Laboratory St Vincent's Hospital VIC
Test Name	LGMD
Genes tested	CAPN3
Test Description	Sequencing is carried out on blood genomic DNA across 24 exons or cDNA from muscle of the Calpain 3 gene across the 23 exons. The test is limited to patients which show a reduction or absent calpain protein on Western. The fee for a Western $200 and sequencing is $500.
Method Type	sequencing
Method Comment	Total genomic DNA is extracted from blood collected in EDTA tubes. Messenger RNA is extracted from muscle tissue and is known to degrade. The calpain protein is also known to degrade. Muscle biopsies must be frozen immediately.
Sample Required	10 ml of Blood collected in EDTA. Muscle - greater than or equal to 50 mg sent frozen on dry ice. Please contact laboratory prior to dispatch. Please ensure the laboratory requistion form with the patient's signed genetic consent is completed. Contact RCPA guideline re sample requirements
Turn around	3 months

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