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UW Health SMPH
American Family Children's Hospital

UW Hospital and Clinics Lab Test Directory

Test Name: Complete Myotonic Dystrophy Evaluation

Test Code(s): MISC / RMISC

CPT Code(s): 83891, 83898x2, 83909x2, 83912

Test Description: Test Component:

DM1 DNA Test and DM2 DNA Test


Methodology: PCR and Southern Blot

Clinical Significance: Detects CTG repeat expansions in the DMPK gene, and CCTG repeat expansions in the ZNF9 gene.

Testing Site: Testing will be sent to an approved reference laboratory.

Turnaround Time: Routine: Approximately 1 month.


Specimen Requirements

Specimen: Blood

Patient Preparation: Testing requires referral screening.  Contact UWHC Test Referral Office at 608.262.6388 prior to collection.

Collection Instructions: This blood must be sent by overnight courier to arrive at the performing laboratory within 24 hours of draw time.  Blood must be received by the UWHC Core Laboratory before 1200 Monday-Thursday.

Collection Container: Preferred: 5 Lavender top tubes

Collection Volume: Preferred: 20 mL

Sample Analyzed: Whole Blood

Specimen Transport: Transport specimen to UWHC Core Laboratory (B4/220).

Unacceptable Criteria: Specimens collected Friday, Saturday or Sunday are not acceptable.

Stability: Ambient: 24-72 hrs
Frozen: Not acceptable


Interpretation

Report provides interpretation.

myotonic dystrophy

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