Myotonic Dystrophy Type 1 (DM1)
Background
Abnormal expansions of the CTG repeat in the 3’UTR of the dystrophia myotonica-protein kinase (DMPK) gene on chromosome 19 (at 19q13.3) are associated with myotonic dystrophy type 1 (DM1). Analysis of the number of CTG trinucleotide repeats is routinely used in diagnostic and predictive testing of individuals symptomatic or at risk of DM1. The prevalence of DM1 is estimated to be 2-5 in 100,000 with approximately 1 in 3,500 cases being congenitally affected.
Testing at WRGL
A fluorescent triplet-primed PCR-based assay is used to determine the size of the CTG repeat in the DMPK gene. The results of the assay can be visualised using GeneMarker software following fragment analysis on a genetic analyser. Positive and negative controls are included in each assay.
Cost, Sample Requirements & Turnaround Times
Test |
Cost NZD* |
Sample Requirements |
Current TAT |
| DMPK trinucleotide repeat expansion test | $231 | 4 ml of whole blood in EDTA (purple top) | 2 - 3 weeks For urgent cases please contact the laboratory |
*No direct charge for the central region DHBs covered by the Crown Funding Agreement
Myotonic Dystrophy type 1 (DM1) testing
ABOUT USWellington Regional Genetics Laboratory (WRGL) provides a comprehensive, integrated diagnostic cytogenetic and molecular genetic testing service
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CONTACT US(04) 918-5352wrgl@ccdhb.org.nz Please note that genetic test results are only released directly to the referring clinician and not to patients |
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