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 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. 

Updated 8/2/2012

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