Comprehensive Peripheral Neuropathy Gene Panel, Varies
Use
This test is used for establishing a molecular diagnosis for patients with peripheral neuropathy and identifying variants within genes associated with the condition. It allows for predictive testing of at-risk family members. The gene panel covers 187 genes known to cause peripheral neuropathies, enabling diagnosis, prognostication, clinical management, recurrence risk assessment, familial screening, and genetic counseling. Due to the heterogeneity and overlap in clinical presentations of peripheral neuropathies, genetic testing facilitates the differentiation between inherited and acquired forms, systemic syndromic disorders, and idiopathic cases.
Special Instructions
Upon request and after initial testing is complete, additional testing options (e.g., panel to Whole Exome Sequencing Reflex Test) may be available. Patient-specific preparation and consent forms are required, especially if the patient has had an allogeneic hematopoietic stem cell transplant or recent blood transfusion, as donor DNA may affect results.
Limitations
NGS may not detect all genomic variants, especially regions with high homology, high GC content, and repetitive sequences. False-negative or false-positive results can occur, and some regions might not meet the minimum performance criteria. The test may not detect low levels of mosaicism or differentiate between somatic and germline variants. Interpretation should consider clinical findings, family history, and supporting data. Variants near regions of homology might not be reliably detected, and deletion/duplication analysis might not achieve single exon resolution. Results require careful contextual interpretation to align with clinical presentations.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103954-4
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 85069-3
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |