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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.
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