Test Overview
Test Methodology

Polymerase Chain Reaction (PCR), Fragment Analysis and Southern Blot

Test Usage

Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene.

Reference Range *

5-37 CTG trinucleotide repeats

Test Details
Analytic Time

14 - 28 days

Soft Order Code
SO
Synonyms
  • Myotonic Dystrophy, Type 1
Laboratory
Sendout
Reference Laboratory
Athena Diagnostics 108
Section
Special Testing
Specimen Requirements
Collection Instructions

Collect specimen in sufficient lavender top tubes. Send intact whole blood specimen at room temperature.

Lavender Top Tube
Normal Volume
8 mL EDTA whole blood (peds 2 mL whole blood)
Minimum Volume
6 mL EDTA whole blood (peds 1 mL whole blood)
Additional Information

Test sent to Athena Diagnostics.

Billing
CPT Code
81234
NY State Approved
No