Myotonia Panel
Use
The Myotonia Panel is intended to aid in the diagnosis of genetic causes of myotonia, including myotonic dystrophy types and nondystrophic myotonias, through comprehensive evaluation of repeat expansions and sequence and deletion/duplication variants in relevant genes.
Special Instructions
Ordering instructions typically follow GeneDx standard neurology test requisition form procedures. Family member testing options may be available as indicated on parent neurology TRF. Refer to GeneDx ordering portal or paper requisition. Label specimens with two identifiers.
Limitations
Turnaround time estimates begin once sample processing begins and may be extended due to factors outside GeneDx control. Panels may be updated; test codes, gene list, and technical limitations are subject to change at GeneDx’s discretion. Full gene list and methods reflect current version.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
Lavender top (EDTA) tube
Collection Instructions
Collect 2–5 mL blood in lavender-top tube (EDTA).