Invitae Dystrophinopathies Test
Use
This test is for the dystrophinopathies, a spectrum of muscle diseases caused by pathogenic variants in the DMD gene, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and dilated cardiomyopathy (DCM). Identifying the genetic cause can guide treatment, predict outcomes, and clarify recurrence risk. It may also be required for clinical trial enrollment.
Special Instructions
Sponsored no-charge testing program available in addition to insurance and patient-pay options. The test involves full-gene sequencing and deletion/duplication analysis using NGS.
Limitations
The test covers clinically important regions of each gene, such as coding exons and adjacent intronic sequences. However, it does not cover sequence changes in the promoter, non-coding exons, or other non-coding regions unless explicitly guaranteed. Single-exon copy number events may not be analyzed in rare situations due to technical limitations. Complex structural rearrangements might not be detected, and certain variant details like mosaicism or phasing might not be fully resolved.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)