| Test Name: |
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Complete Myotonic Dystrophy Evaluation
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| Test Code(s): |
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MISC / RMISC
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| CPT Code(s): |
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83891, 83898x2, 83909x2, 83912
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| Test Description: |
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Test Component: DM1 DNA Test and DM2 DNA Test
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| Methodology: |
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PCR and Southern Blot
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| Clinical Significance: |
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Detects CTG repeat expansions in the DMPK gene, and CCTG repeat expansions in the ZNF9 gene.
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| Testing Site: |
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Testing will be sent to an approved reference laboratory.
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| Turnaround Time: |
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Routine: Approximately 1 month.
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Specimen Requirements
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| Specimen: |
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Blood
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| Patient Preparation: |
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Testing requires referral screening. Contact UWHC Test Referral Office at 608.262.6388 prior to collection.
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| Collection Instructions: |
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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.
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| Collection Container: |
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Preferred: 5 Lavender top tubes
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| Collection Volume: |
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Preferred: 20 mL
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| Sample Analyzed: |
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Whole Blood
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| Specimen Transport: |
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Transport specimen to UWHC Core Laboratory (B4/220).
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| Unacceptable Criteria: |
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Specimens collected Friday, Saturday or Sunday are not acceptable.
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| Stability: |
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Ambient: 24-72 hrs
Frozen: Not acceptable
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Interpretation
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Report provides interpretation.
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