Invitae Charcot-Marie-Tooth Disease Comprehensive Panel
Use
The Invitae Charcot-Marie-Tooth Disease Comprehensive Panel analyzes genes associated with Charcot-Marie-Tooth disease (CMT), a group of hereditary neuropathies characterized by progressive muscle weakness and sensory loss in the arms and legs. Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
Special Instructions
Some genes in this test may also be associated with additional unrelated disorders. For details about regions or types of variants that are covered or excluded, please consult the test definition on our website.
Limitations
Limitations include potentially reduced sensitivity for insertions and deletions larger than 15bp but smaller than a full exon and the possible inability to detect certain structural rearrangements, variants in complex sequence architectures, or single-exon copy number events due to sequence properties or reduced data quality. Sequence changes in promoter, non-coding exons, and other non-coding regions are not covered unless explicitly stated.
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)