DMD Gene, Full Gene Analysis
Use
This test is useful for establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy. It identifies variants within the DMD gene known to be associated with these conditions, allowing for predictive testing of at-risk family members. Identification of disease-causing variants may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.
Special Instructions
For prenatal specimens, if amniotic fluid is received, amniotic fluid culture will be performed at an additional charge. Similarly, for any prenatal specimen received, maternal cell contamination testing will be performed at an additional charge. For cord blood specimens with an accompanying maternal blood specimen, maternal cell contamination studies will also be performed.
Limitations
This analysis is limited to the detection of single nucleotide variants and copy number variants within the DMD gene using next-generation sequencing. Potential limitations include the inability to detect all possible variants due to technological constraints and coverage limitations in certain regions of the gene.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided