DM1 DNA Test

Abbrev Code:DM1DNT   
Order Code:LAB6929Order Name:DM1 DNA Myotonic Dystrophy Type 1
Synonyms:Myotonic Dystrophy, Type 1; DMPK DNA Test
Methodology:Repeat expansion detection by PCR, Southern Blot
CPT Codes: 81234 x1
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 15-29 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:

Genetic Testing Consent Form

Collection Instructions

Optimal Volume:8 mL (adult); 2 mL (pediatric)
Minimum\Peds Volume:6 mL (adult); 1 mL (pediatric)
Container:Purple (EDTA)

Processing and Shipping

Specimen Processing:Whole blood Do not process. Store refrigerated.
Shipping Instructions:Ship at room temperature. Avoid freezing. Must arrive Mon-Fri.
Stability:Stability: 10 days at room temperature or refrigerated. Unacceptable frozen.
Test Performed at or Referral Lab Lab Sendouts  (Athena Diagnostics)
Referral Lab number:108


Reference Range:Normal: 5-34 CTG trinucleotide repeats.
Use:Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene.

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