DNA Diagnostic Testing for Autosomal Recessive Familial Dysautonomia (IKBKAP, FD, HSANIII)

  • Phone: 617-726-5721

Test Description

We currently offer DNA testing for the major (c.2204+6T>C) and the minor (p.Arg696Pro) mutations and the Cohen SNP (p.Pro914Leu) in the IKBKAP gene. The test is done by PCR amplification and sequencing analysis.

Sample Preparation: Sample Preparation (PDF)

Results

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

Reason

DNA analysis is appropriate for the study of affected patients, for diagnostic confirmation in a suspected affected patient, and in carrier and prenatal testing situations after the family mutation has been identified in the proband. 


Updated 8/2/2012