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Emery-Dreifuss Muscular Dystrophy Panel, Sequencing
3001839
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Ordering Recommendation
Use to assess for Emery-Dreifuss muscular dystrophy (EDMD) in individuals with clinical findings or family history suggestive of EDMD.
Mnemonic
EDMD NGS
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
3-6 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender (EDTA) or Yellow (ACD Solution A or B).
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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
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