Myotonic Dystrophy (DMPK)
Order Name
MYOTON DYS
Test Number: 5594800
Revision Date 12/12/2022
Test Number: 5594800
Revision Date 12/12/2022
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
Myotonic Dystrophy (DMPK)
|
Polymerase Chain Reaction |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 4 mL (1 mL) | Whole Blood | EDTA (Lavender Top) | Room Temperature |
| Instructions | Specimen Type: Lavender-Top (EDTA) Tube Specimen Storage: Ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE. Specimen Collection: Draw blood into EDTA tube guidelines in kit; Transfer extracted DNA into sterile screw capped tube; Collect biopsy and/or culture cells per established policy Special Instructions: Testing referred to Medical Neurogenetic LLC MNEGA#MOL299 Specimen Stability: Ambient: 5 days, Refrigerated : 5 days, Frozen: Do NOT Freeze |
|||
| GENERAL INFORMATION | |
|---|---|
| Expected TAT | 2 - 4 weeks |
| Clinical Use | Myotonic dystrophy (DM) is the most common inherited neuromuscular disease in adults and affects 1 in 8,000 individuals. DM is an autosomal dominant muscle disease which is caused by a defect in the regulation of a gene cluster located on chromosome 19q13.2. Myotonic dystrophy results in prolonged muscle contraction, cardiac arrhythmia, and can cause cataracts. |
| Notes | Labcorp Test Code: 620084 |
| CPT Code(s) | 81234 (Pre-Authorization Required) Please submit Pre-Authorization form when the patient has United Healthcare insurance. |
| Service Provided By |  |
| Lab Section | Reference Lab |