Invitae Comprehensive Neuropathies Panel
Use
The Invitae Comprehensive Neuropathies Panel analyzes genes associated with hereditary neuropathies, such as Charcot-Marie-Tooth disease (CMT), hereditary motor neuropathy (HMN), and hereditary sensory and autonomic neuropathy (HSAN). Genetic heterogeneity in these conditions makes it difficult to use phenotype as the sole criterion; thus, broad panel testing efficiently evaluates several potential genes based on a single clinical indication. Genetic testing may confirm diagnosis, predict disease progression, facilitate early detection, inform family planning, and aid in clinical trials.
Special Instructions
Not provided.
Limitations
The analysis may not detect structural rearrangements, sequence variants in non-coding regions not covered, or mosaicism. In rare situations, single-exon copy number events may not be detected. Certain details about variants such as mapping ambiguity may not be resolvable. Test reflects the analysis of DNA and may not always represent the patient's constitutional genome due to factors like recent transfusion.
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)
Other tests from different labs that may be relevant