Comprehensive Neuromuscular Panel
Use
This test is intended for individuals with relevant clinical features suggestive of a skeletal muscle-related neuromuscular disorder, those with elevated creatine kinase (CK) levels, and individuals with muscle biopsy and/or EMG results suggestive of a myopathic process. It aims to provide a comprehensive genetic analysis to aid in the diagnosis and management of neuromuscular diseases by assessing a broad spectrum of potential genomic variations.
Special Instructions
This test is performed using Next-Generation Sequencing (NGS) with CNV analysis on either an Exome or Genome Platform. The test includes options for expedited STAT processing, prenatal diagnostics, and can be supplemented with an Exome-Wide CNV Analysis for an additional fee.
Limitations
This test focuses primarily on detecting known genetic variants within the specified 266 genes, and while thorough, it may not detect all possible mutations or rare variants outside of the targeted regions. Additionally, the analysis may miss structural variants or very low frequency variants due to technical limitations inherent in NGS and CNV methodologies.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Follow standard blood collection procedures. Ensure tubes are properly labeled and stored until shipment.