Amyotrophic Lateral Sclerosis (ALS)/Motor Neuron Disease via the SOD1 Gene
Use
This test is intended for individuals with clinical or suspected ALS and those with family histories suggestive of SOD1-related ALS. It is relevant for the diagnostic evaluation of patients showing symptoms consistent with ALS and in family members where the causative SOD1 variant remains unknown. Genetic counseling may be warranted for reproductive partners of individuals with a known pathogenic SOD1 variant, as they may be at risk of passing this variant to future offspring.
Special Instructions
Testing utilizes both exome and genome platform capabilities, employing NGS with CNV analysis to thoroughly investigate the SOD1 gene. Orders can be placed online or via fax using the provided requisition form. Institutional pricing is available upon signing in, and STAT testing expedites results for urgent cases.
Limitations
The test is focused specifically on the SOD1 gene and may not detect all pathogenic variants associated with ALS. While NGS with CNV analysis is comprehensive, there may be variants and regions that are not detectable due to technical limitations or insufficient coverage. This test has not been cleared or approved by the FDA, which may have implications for certain regulatory requirements.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided