Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

COMPLETE MYOTONIC DYSTROPHY EVALUATION SEQUENCING

General Information

Lab Order Codes:

CMD

Synonyms:

Myotonic Dystrophy; DM1; DM2

CPT Codes:

81401 – Molecular Pathology procedure, Level 2
81479 – Molecular Pathology procedure, Unlisted

Test Includes:

DM1 DNA and DM2 DNA testing

Logistics

Test Indications:

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.

Lab Testing Sections:

Anatomic Pathology – Sendouts

Referred to:

Mayo Medical Laboratories (MML Test#: 91452/FCMD) forward to Athena Diagnostic Laboratory (Athena Test#: 126)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

Results are reported in 4 – 5 weeks

Special Instructions:

Include forms Athena requisition and "The Medical Practitioner's Authorization form" with specimens or patients to the lab.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

Minimum: 20 mL (Adult), 4 mL (Pediatrics) blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture

Special Processing:

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.

Patient Preparation:

None

Sample Rejection:

Mislabeled or unlabeled specimens

Interpretive

Reference Range:

Interpretive report

Critical Values:

N/A

Limitations:

N/A

Methodology:

PCR, Fragment analysis and Southern blot

References:

Mayo Medical Laboratories August 2013
(800) 533-1710

Athena Diagnostics August 2013
(800) 394-4493 Fax: (508) 753-5601

Updates:

2/4/2013: CPT update



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