Emery-Dreifuss Muscular Dystrophy Panel, Sequencing
Also known as: EDMD NGS
Use
Use to assess for Emery-Dreifuss muscular dystrophy (EDMD) in individuals with clinical findings or family history suggestive of EDMD. EDMD is characterized by early onset joint contractures, progressive limb muscle weakness and wasting, and cardiac disease. The test detects pathogenic variants in EMD, FHL1, or LMNA genes associated with EDMD, which can have X-linked or autosomal dominant patterns of inheritance.
Special Instructions
Not provided.
Limitations
This test only detects variants within coding regions and intron-exon boundaries of targeted genes. Regulatory region variants and deep intronic variants will not be identified. Some insertions, duplications, and deletions may not be detected. The presence of low-level mosaic or somatic variants, as well as noncoding transcripts, will not be identified. Diagnostic errors can occur due to rare sequence variations, especially in the presence of pseudogenes, repetitive, or homologous regions.
Methodology
NGS
Biomarkers
EMD, FHL1, LMNA
Gene
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA) or Yellow (ACD Solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours; New York: 48 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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