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