Genetic Tests

Lab	National Referral Laboratory SA Pathology SA
Test Name	MCAD deficiency common mutation screen
Genes tested	ACADM
Test Description	This test is used to screen for the causative mutations in patients with a biochemical diagnosis or for carrier testing when the familial mutations are not known. The screen accounts for ~80% of Australasian alleles.
Method Type	specific assay/s
Method Comment	PCR-based assays for analysis of selected sequence changes.
Sample Required	5mL EDTA blood or at least 2mg DNA RCPA guideline re sample requirements
Turn around	3 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