Invitae Comprehensive Myopathy Panel
Use
The Invitae Comprehensive Myopathy Panel analyzes genes associated with inherited myopathies, a group of neuromuscular conditions characterized by muscle weakness. Due to genetic heterogeneity, phenotype alone may not reveal the cause of these conditions. This panel provides a broad analysis of potential genes based on current evidence, aiding diagnoses, predicting disease progression, facilitating early symptom detection, informing family planning, and enabling clinical trial participation.
Special Instructions
The test is performed in a CAP-accredited and CLIA-certified lab using NGS for full-gene sequencing and deletion/duplication analysis. Note that test can be customized by selecting or removing specific genes from the panel.
Limitations
The assay achieves >99% sensitivity and specificity for single nucleotide variants and small indels. Sensitivity for larger insertions and deletions may vary. Certain structural rearrangements or variants in non-coding regions might not be detected. Known limitations will be documented in the report. Not all non-coding regions are covered, and rare genomic novel events could affect the analysis.
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)