Pathology Test Details

Item	Details
Laboratory	Concord Repatriation General Hospital : Molecular Medicine Laboratory - NSW
Test Name	Myotonic Dystrophy Type 1 (DM1)Test
Genes Tested	DMPK
Test Description	Test for the CTG trinucleotide repeat expansion in DMPK responsible for autosomal dominant myotonic dystrophy type 1 (DM1).
Method	PCR, fragment analysis, TP-PCR and Southern Blot
Test Type	single
Comment	Prenatal testing and predictive testing is available.
Test Accreditation	Included In NATA Scope
Clinical Context	Heritable variants
Sample Required	5 ml of EDTA whole blood or 15 micrograms of DNA, Chorionic villus sampling (CVS).
Turn Around Time	8 weeks
Medicare Rebate	No Medicare rebate
Pathology Test Last Edit Date	3/07/2017 10:24:42 AM 03-Jul-2017

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