Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies
Use
This test is indicated for confirmation of clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD), to distinguish DMD from BMD in some cases based on the type of deletion detected for better prognosis prediction, determination of carrier status in at‑risk family members, and prenatal diagnosis in at‑risk pregnancies.
Special Instructions
If testing is being performed due to family history, documentation regarding the familial variant before testing an asymptomatic individual or proceeding with carrier testing is preferred. Reflex tests: CULFB (Fibroblast Culture for Genetic Test), CULAF (Amniotic Fluid Culture/Genetic Test), MATCC (Maternal Cell Contamination, B), _STR1 and _STR2 comparative STR analysis. For prenatal specimens, amniotic fluid culture or fibroblast culture and maternal cell contamination studies may be added and charged separately. Informed consent required for New York clients; additional forms: Neurology Specialty Testing Client Test Request (T732) and patient information forms.
Limitations
Approximately 70% of patients have intragenic deletions and ~20% have intragenic duplications; other types such as missense, nonsense, splice site, and small indels are not detected. May not detect low‑level mosaicism. Rare polymorphisms may lead to false negatives or positives. Results must be interpreted in context of clinical findings, family history, and other lab data.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 75385-5
- 50397-9
- 75385-5
- 69047-9
- 31208-2
- 18771-6
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
2 Flasks
Minimum Volume
Not provided
Container
T‑25 flask
Collection Instructions
Submit confluent cultured prenatal cells (e.g., cultured fibroblasts, amniocytes) from another laboratory.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | <24 hours |
| Refrigerated | <24 hours |
| Frozen | 1 year |