Dystrophinopathy via the DMD Gene
Use
This test is designed for individuals with a clinical or suspected diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD), individuals with negative results from previous DMD/BMD testing using methods like multiplex PCR, MLPA, or Southern blot, and females with a family history of DMD/BMD who may be carriers when the specific variant information is unknown.
Special Instructions
The test uses NGS with CNV analysis on either an exome or genome platform. This allows for a comprehensive assessment of the DMD gene to detect both single nucleotide variants and large copy number variants.
Limitations
The test is limited to the analysis of the DMD gene; therefore, mutations outside this gene will not be detected. Additionally, the ability to interpret variants is dependent on the quality of clinical information provided alongside the test request. Variants of uncertain significance may require further investigation, including familial testing.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided