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Lab Dept:
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Anatomic Pathology
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Test Name:
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COMPLETE MYOTONIC DYSTROPHY EVALUATION SEQUENCING
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General Information
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Lab Order Codes:
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CMD
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Synonyms:
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Myotonic Dystrophy; DM1; DM2
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CPT Codes:
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81404 – Molecular Pathology procedure, Level 5
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Test Includes:
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DM1DNA test and DM2 DNA testing
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Logistics
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Test Indications:
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Use to detect CTG repeat expansions in the DMPK gene, and CCTG repeat expansions in the ZNF9 gene.
Adults may present with myotonia, ptosis, and muscle wasting. Other symptoms may include frontal balding, cataracts, cardiac complications, infants may present with severe hypotonia, skeletal deformities, developmental delay and mental retardation.
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Lab Testing Sections:
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Anatomic Pathology – Sendouts
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Referred to:
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Mayo Medical Laboratories (MML Test#: 91452) forward to Athena Diagnostic Laboratory (Athena Test#: 126)
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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Results are reported in 4 – 5 weeks
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Special Instructions:
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Include forms Athena requisition and "The Medical Practitioner's Authorization form" with specimens or patients to the lab.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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Minimum: 20 mL blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not Centrifuge. Specimen should remain in the original collection container. Store and ship at room temperature. Forward promptly.
Minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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Interpretive report
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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PCR, Fragment analysis and Southern blot
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References:
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Mayo Medical Laboratories April 2010
(800) 533-1710
Athena Diagnostics April 2010
(800) 394-4493 Fax: (508) 753-5601
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Updates:
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2/4/2013: CPT update
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