Myotonic Dystrophy Type 1 (DMPK) CTG Expansion
Test Mnemonic
DM1DNA
CPT Codes
- 81234 - QTY (1)
Aliases
- Congenital Myotonic Dystrophy (CMyD)
- DM1 DNA
- Myotonic Dystrophy (DM1)
- Steinert Disease
Includes
- Myotonic Dystrophy (DM1) - Specimen
- Myotonic Dystrophy (DM1) - Allele 1
- Myotonic Dystrophy (DM1) - Allele 2
- Myotonic Dystrophy (DM1) Interpretation
Performing Laboratory
ARUP
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 3 mL | Whole blood | EDTA (Lavender) | Refrigerated |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 1 mL |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | 1 week |
| Refrigerated | 1 month |
| Frozen | Unacceptable |
Days Performed
Varies
Turnaround Time
8 - 11 days
Methodology
| Name | Description |
|---|---|
| Capillary Electrophoresis (CE) | |
| Polymerase Chain Reaction (PCR) |
Reference Range
Clinical Info
This test is used to diagnose myotonic dystrophy type 1 (DM1) in symptomatic individuals. May be used to screen for DM1 for adults with a family history. Specific allele sizing estimates cannot be determined for expanded alleles with greater than 150 CTG repeats.