Browse by Medical Category
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 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 carrier and prenatal testing situations after the family mutation has been identified in the proband.
Back to Top