Duchenne/Becker Muscular Dystrophy (DMD) Sequencing
Also known as: DMD SEQ
Use
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked disorders characterized by muscle weakness and progressive deterioration. Symptoms typically begin in childhood for DMD with more severe progression and later onset and slower progression for BMD. Genetic testing for DMD sequencing is essential for diagnosing these conditions, managing patient care, and enabling genetic counseling. This test targets coding regions and exon-intron junctions of the DMD gene, and it can identify pathogenic variants that are causative for DMD/BMD, thus influencing therapeutic strategies and family planning.
Special Instructions
Not provided.
Limitations
This sequencing test does not detect all types of variants that could cause DMD/BMD, such as those in regulatory regions, deep intronic variants, or somatic variants. It can only identify variants within the coding regions and exon-intron boundaries. Variants larger than 10 base pairs might be detected with reduced sensitivity. Technical limitations such as the presence of pseudogenes or homologous regions may also prevent the detection of some variants. A negative result does not completely exclude a heritable form of muscular dystrophy. Interpretation may be impacted by factors such as rare sequence variations and previous stem cell transplantation.
Methodology
NGS (Targeted)
Biomarkers
DMD
Gene
LOINC Codes
- 31208-2 - Specimen source
- 50626-1 - DMD gene Mut Anl Bld/T
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
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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