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Since 2006, published research studies have identified mutations in ANG1, TARDBP2, and FUS/TLS3 genes in Familial amyotrophic lateral sclerosis (FALS) patients.
We offer a new expanded FALS panel of tests that includes three genes; ANG (full coding region sequencing), TARDBP (exon 6) and FUS/TLS (exons 5, 6 and 15). Mutations in these genes have been identified in FALS patients. Collectively, the mutation detection rate in these three genes is about 10-11% in FALS patients.
Our lab has tested for mutations in the SOD1 gene—with a detection rate of 20%— for patients with FALS since 1995. Familial amyotrophic lateral sclerosis accounts for about 10-15% of all diagnosed ALS cases. This additional panel of tests increases our mutation detection among FALS patients to about 30%.
Sample Preparation: Sample Preparation (PDF)
Results of DNA analysis will be communicated in a written report to the referring professional.
These tests are especially important for FALS patients who tested negative for SOD1 mutations.
1. Wu et al. 2007 Annals of Neurology, 62(6):609-6172. Rutherford et al. 2008 PLoS Genetics, 4(9):e10001933. Kwiatkowski et al. 2009 Science, 323:1205-1208
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