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