Neurogenetics DNA Diagnostic Laboratory: Testing for Familial amyotrophic lateral sclerosis (FALS) patients that includes targeted mutations in three genes: ANG, TARDBP and FUS/TLS.

  • Phone: 617-726-5721

Since 2006, published research studies have identified mutations in ANG1, TARDBP2, and FUS/TLS3 genes in Familial amyotrophic lateral sclerosis (FALS) patients.

Test Description

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

Results of DNA analysis will be communicated in a written report to the referring professional.

Reason

These tests are especially important for FALS patients who tested negative for SOD1 mutations.

 


1.    Wu et al. 2007 Annals of Neurology, 62(6):609-617
2.    Rutherford et al. 2008 PLoS Genetics, 4(9):e1000193
3.    Kwiatkowski et al. 2009 Science, 323:1205-1208

 

 

updated 5/24/2012