Neurogenetics DNA Diagnostic Laboratory: DNA Diagnostic Testing for ANG Mutations Associated with Amyotrophic Lateral Sclerosis

  • Phone: 617-726-5721

Test Description

We offer direct PCR-based DNA sequencing for Angiogenin (ANG) gene mutation analysis.

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 SOD1 gene for patients with FALS. Recently, published research studies in Irish and Scottish ALS populations as well as in US ALS populations have indicated that ANG mutations are present in more than 1% of patients with ALS. Therefore, this test is especially important for ALS patients who have tested negative for SOD1 mutations previously.

Sample Preparation: Sample Preparation (PDF)

Results

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

Reason

Analysis is appropriate for the study of familial or sporadic cases where diagnostic consideration and/or confirmation in an affected individual are sought. It is possible to evaluate and possibly identify a disease mutation in unaffected carriers (presymptomatic individuals) with a family history.