SOD1 Gene, Full Gene Analysis, Varies
Use
This test is used to establish a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS), identifying variants within SOD1 known to be associated with ALS. Detection of a disease-causing variant supports diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for ALS.
Special Instructions
Reflex testing protocols apply: fibroblast culture will be added for skin biopsy specimens; amniotic fluid culture for prenatal specimens; maternal cell contamination testing for prenatal/cord blood specimens when accompanied by a maternal blood specimen. The test employs next-generation sequencing for single nucleotide and copy number variants in SOD1; reflex confirmation using PCR and Sanger sequencing as needed.
Limitations
NGS may not detect all genomic variant types; false negatives or positives may occur. Coverage may vary across regions, and limitations in single exon resolution, regions of homology, high GC content, or repetitive sequences may impact performance. Balanced structural rearrangements, large indels, mosaicism, or differentiation between germline and somatic variants may not be detected. Technical limitations may necessitate alternative methods; donors of hematopoietic stem cell transplants or recent transfusions may affect results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 49710-7
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
Result Turnaround Time
14-21 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), acceptable green top (Sodium heparin)
Collection Instructions
Invert several times to mix; send whole blood in original tube; do not aliquot
Patient Preparation
None stated; note prior hematopoietic stem cell transplant may interfere
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |