MYOTONIC DYSTROPHY TYPE 1 (DM1), EDTA BLOOD

This genetic test detects mutations in the DMPK gene that cause myotonic dystrophy type 1. It aids in diagnosing this progressive muscle disease and managing symptoms.

Also known asMyotonic Dystrophy Type 1 (dm1) Myotonic Dystrophy Type 1 (dm1)

Available via

Home Collection, Lab Visit

Contains

2 parameters

Earliest reports in

10 Working Days

Test details

MYOTONIC DYSTROPHY TYPE 1 (DM1), EDTA BLOOD Test in Mangaluru Overview

Preparations

No special preparations needed

Test included
MYOTONIC DYSTROPHY TYPE 1 (DM1), EDTA BLOOD includes 2 parameters

  • Prelim
  • Myotonic Dystrophy Type 1 (dm1)
Frequently Asked Questions

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

Specimen vol. and vacutainer information
SpecimenVacutainerVolume
Edta Whole BloodLavender Vacutainer1 ML

Specimen stability information

Edta Whole Blood

Specimen rejection criteria

Test run frequency

Every Day TIME - 09:30

Turn around time

10 Working Days

Performing locations

Department

  • Advanced Molecular Diagnostics R&d

CPT and Loinc codes

MYOTONIC DYSTROPHY TYPE 1 (DM1), EDTA BLOOD

8000