Invitae Small Fiber Neuropathy Test
Use
The Invitae Small Fiber Neuropathy Test analyzes up to two genes that are associated with small fiber neuropathy (SFNP), a type of peripheral neuropathy characterized by severe pain episodes that typically begin in the hands or feet, then affect larger areas of the body over time. Identification of the underlying genetic cause can help predict patient outcome and inform recurrence risk.
Special Instructions
You can customize this test by clicking genes to remove them. Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include such genes, which may prove clinically significant in the future.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp, and exon-level deletions and duplications. Some variants, such as structural rearrangements or complex sequences, may not be detected. It may not resolve certain variant details like mosaicism or phasing. Sequence changes in promoter and non-coding regions are not covered unless specified.
Methodology
NGS
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)
