Myotonic Dystrophy Type 1 (DM1)
- Prelim
- Myotonic Dystrophy Type 1 (dm1)
This genetic test identifies expansions in the DMPK gene, which cause type 1 myotonic dystrophy, a neuromuscular disorder.
It is used to diagnose DM1 in individuals with symptoms like muscle weakness, myotonia, or family history of the disorder.
DNA is extracted from a blood sample and analyzed using PCR and Southern blot techniques to detect CTG repeat expansions.
Expanded CTG repeats confirm the diagnosis. The size of the expansion can correlate with severity and age of onset.
No special preparation is required. Genetic counseling is recommended.
Test code
RD1484
CPT and Loinc codes
Department
- Advanced Molecular Diagnostics R&d
Turn around time
10 Working Days
Test run frequency
Every Day TIME - 09:30
Performing locations
1 labs across India
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Edta Whole Blood | Lavender Vacutainer | 1 ML |
Specimen stability information
Edta Whole Blood
Package price
₹8560
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₹8560