DM1 DNA Test


Sunquest Code:DM1DNT  
Epic Code:LAB6929Epic Name:DM1 DNA Myotonic Dystrophy Type 1
Synonyms:Myotonic Dystrophy, Type 1; DMPK DNA Test
Methodology:Repeat expansion detection by PCR
CPT Code:81401
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:

Genetic Testing Consent Form



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.


Click HERE to Report test errors or omissions.
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