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Test DescriptionWe currenlty offer DNA mutation analysis of the superoxide dismutase 1 (SOD1) gene using PCR amplification and direct DNA sequencing of the coding exons. More than 170 mutations have been reported in the SOD1 gene across all 5 exons. Familial amyotrophic lateral sclerosis (FALS) accounts for about 10-15% of all diagnosed ALS cases. In patients with the ALS phenotype, without a family history, we can expect on statistical grounds, therefore, to identify a SOD1 mutation in only 2-3% of "single-affected persons" studied.
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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