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We currently offer DNA mutation analysis of the TARDBP 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 have been offering DNA test for mutations in the SOD1 gene for patients with FALS. The 2008 published research studies have indicated that TARDBP mutations are present in 3-4% of patients with familial and sporadic ALS. 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 also 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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