Invitae Congenital Muscular Dystrophy Panel
Use
The Invitae Congenital Muscular Dystrophy Panel analyzes genes associated with congenital muscular dystrophies, a heterogeneous group of neuromuscular conditions with widely variable symptom severity. Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials. The clinical sensitivity of this test is dependent on the individual’s underlying genetic condition.
Special Instructions
This test is performed at a College of American Pathologists (CAP)-accredited and CLIA-certified laboratory using next-generation sequencing technology. Please ensure proper specimen collection and handling. Consult the test definition on our website for coverage and limitations. Contact client services with any questions.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. It may not detect structural rearrangements or variants in complex sequence regions. Certain variant details such as mosaicism may not be fully resolved. Non-coding regions are not covered unless specified.
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)