Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene
Use
This test is intended for individuals who have clinical manifestations or a suspected diagnosis of amyotrophic lateral sclerosis (ALS), especially those who have not tested positive for C9orf72 repeat expansion and SOD1 gene variants. Additionally, it aligns with individuals of Cape Verdean ancestry suspected of having autosomal recessive ALS. It helps identify genetic abnormalities contributing to ALS, aiding in clinical management and familial risk assessment.
Special Instructions
Not provided.
Limitations
The test has been validated by PreventionGenetics under CAP and CLIA regulations. It has not been cleared or approved by the FDA, which may impact its acceptance or integration into specific clinical workflows. False negatives can arise if variants are located in regions not covered reliably by NGS or due to technical limitations in detecting certain mutation types, such as deep intronic or low-frequency mosaic mutations.
Methodology
NGS (Targeted)
Biomarkers
FUS
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided