Metabolic Myopathy Panel
Use
This panel includes sequencing and deletion/duplication analysis of 30 genes associated with metabolic myopathies, aimed at identifying genetic causes of neurometabolic conditions presenting with features such as rhabdomyolysis, muscle weakness, or energy metabolism disorders. It supports molecular diagnosis, guides management, and informs recurrence risk for families.
Special Instructions
Ordering is via GeneDx Neurology Test Requisition Form under the code T012; family member testing options are noted as “None.” Sample to be sent within 3 weeks as per the requisition guidance.
Limitations
Technical limitations and full gene list may be found on the GeneDx website; specific disclaimers around coverage, detection thresholds, and analytic sensitivity are referenced via external site content and are not reiterated here.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided