DM1 DNA Test
| Sunquest Code: | DM1DNT | ||
| Epic Code: | LAB6929 | Epic Name: | DM1 DNA Myotonic Dystrophy Type 1 |
| Synonyms: | Myotonic Dystrophy, Type 1; DMPK DNA Test; Southernn Blot | ||
| Methodology: | Repeat expansion detection by PCR | ||
| CPT Code: | 81234 | ||
| Turnaround Time: | Specimens are sent to reference laboratory Mon-Fri; results are reported within 14-28 days. | ||
| Special Instructions: | A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic testing Consent Form is provided as a convenience for the providers and genetic counselors. | ||
| Associated Links: | |||
Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 8 mL (adult); 2 mL (pediatric) |
| Minimum\Peds Volume: | 6 mL (adult); 1 mL (pediatric) |
Processing and Shipping
| Specimen Processing: | Whole blood Do not process. Store refrigerated. |
| Shipping Instructions: | Ship at room temperature. Avoid freezing. Must arrive Mon-Fri. |
| Test Performed at or Referral Lab | Lab Sendouts (Athena Diagnostics) |
| Referral Lab number: | 108 |
Interpretive
| Reference Range: | Normal: 5-34 CTG trinucleotide repeats. |
| Use: | Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene. |
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