Charcot-Marie-Tooth (CMT) - Comprehensive Panel
Use
The Charcot-Marie-Tooth (CMT) Comprehensive Panel is designed for individuals with a clinical or suspected diagnosis of Charcot-Marie-Tooth disease. It is suitable for those who have features suggestive of CMT, such as foot deformities, loss of balance, foot drop, frequent tripping and falls, or distal muscle weakness. This test also applies to individuals who experience sensory loss, including a reduced ability to feel heat, cold, and touch, as well as those with abnormal nerve conduction velocity findings.
Special Instructions
This test requires specific specimen types dependent on the platform used. For the Exome Platform, acceptable specimens include blood, DNA, buccal, saliva, and tissue. The Genome Platform accepts only blood and DNA. Order options include Exome-Wide CNV Analysis and STAT testing, with additional charges for expedited processing.
Limitations
This panel analyzes 83 genes associated with Charcot-Marie-Tooth disease using NGS with CNV analysis on either the exome or genome platform. Limitations include the potential for missing certain CNVs that do not meet detection thresholds and the inability to detect other variations not covered by the selected platform. There may also be a risk of false negatives for certain rare variants.
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