Invitae Comprehensive Muscular Dystrophy Panel
Use
The Invitae Comprehensive Muscular Dystrophy Panel analyzes genes associated with inherited muscular dystrophies, which are characterized by muscle weakness and wasting due to muscle dysfunction. This test provides a broad evaluation of genes associated with these conditions, given their genetic heterogeneity. Genetic testing can confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
Special Instructions
This test is offered through a sponsored, no-charge testing program in addition to insurance and patient-pay billing options. The test does not cover facioscapulohumeral muscular dystrophy type 1 (FSHD1), oculopharyngeal muscular dystrophy (OPMD), or myotonic dystrophy types 1 and 2.
Limitations
The test does not analyze non-coding regions, such as promoters and non-coding exons, unless specified. Certain variant types like structural rearrangements or variants in complex sequence architectures may not be detected. In rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties.
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)