Invitae Comprehensive Neuromuscular Disorders Panel
Use
The Invitae Comprehensive Neuromuscular Disorders Panel analyzes genes associated with hereditary neuromuscular conditions including muscular dystrophies, myopathies, mitochondrial disorders, congenital myasthenic syndromes, and rhabdomyolysis. It aids in confirming clinical diagnosis, predicting disease progression, facilitating early symptom detection, and informing family planning and genetic counseling. Its broad panel testing is efficient for evaluating multiple potential genes based on a single clinical indication. The test does not currently include certain conditions such as FSHD1, OPMD, or myotonic dystrophy types 1 and 2, for which additional testing should be considered.
Special Instructions
Not provided.
Limitations
The test has limitations including inability to detect certain rearrangements, such as inversions, gene conversion events, and translocations. Variants in complex sequence architecture or certain non-coding regions may not be covered. Occlusions in data quality may hinder analysis of single-exon copy number events. The analysis exclusions are applicable to structural rearrangements, or complex DNA regions, and variants outside defined regions. Mosaicism and phasing may 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)
Other tests from different labs that may be relevant