DNA Diagnostic Testing for Familial Amyotrophic Lateral Sclerosis - FUS/TLS Full Gene Sequencing
- Phone: 617-726-5721
REQUIRED FOR ALL ORDERS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
We currently offer DNA mutation analysis of the FUS/TLS gene using PCR amplification and direct DNA sequencing of the coding exons. Familial amyotrophic lateral sclerosis (FALS) accounts for about 10-15% of all diagnosed ALS cases. Our lab has been offering DNA test for mutations in the SOD1 gene for patients with FALS. The 2009 published research studies have indicated that FUS/TLS mutations are present in more than 5% of patients with FALS. Therefore, this test is especially important for ALS patients who have been tested negative for SOD1 mutations previously..
Sample Preparation: Sample Preparation (PDF)
Results of DNA analysis will be communicated in a written report to the referring professional.
DNA analysis is appropriate for the study of affected patients, for diagnostic confirmation in a suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband.