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3001839
Emery-Dreifuss Muscular Dystrophy Panel, Sequencing
EDMD NGS
Ordering Recommendation
Use to assess for Emery-Dreifuss muscular dystrophy (EDMD) in individuals with clinical findings or family history suggestive of EDMD.
New York DOH Approval Status
Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.
Specimen Required
Patient Preparation
Collect
Lavender (EDTA) or Yellow (ACD Solution A or B).
New York State Clients: Lavender (EDTA)
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)
New York State Clients: 3 mL (Min:3 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens
Remarks
Stability
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-15 days
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Genes Tested: EMD, FHL1, LMNA
Hotline History
N/A
CPT Codes
81479; 81404; 81406
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3001840 | Emery-Dreifuss Muscular Dystrophy Spec | |
| 3001841 | Emery-Dreifuss Muscular Dystrophy Interp |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
- EDMD
- EDMD1
- EDMD2
- EDMD3
- EDMD6
Emery-Dreifuss Muscular Dystrophy Panel, Sequencing
