Comprehensive Distal Weakness Gene Panel, Varies
Use
The Comprehensive Distal Weakness Gene Panel is utilized for establishing a molecular diagnosis for patients exhibiting distal weakness. It identifies variants within genes known to be associated with distal weakness, which is critical for predictive testing of at-risk family members. Distal weakness can result from peripheral neuropathy and distal myopathy, both of which are inherited neuromuscular disorders. Testing with this panel aids in diagnosing such conditions by detecting genetic variants, thus assisting in clinical management, prognosis, familial screening, and genetic counseling.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants; false-negative or false-positive results may sometimes occur. There are known technical limitations, such as regions of homology, high guanine-cytosine content, and repetitive sequences. Single exon resolution may not be achievable in deletion/duplication analysis due to genomic complexity. Additionally, this test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. Variants classified as benign are typically not reported.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103731-6 - Distal weak multi Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
Result Turnaround Time
28-42 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 |