DNA Diagnostic Testing for Autosomal Recessive Familial Dysautonomia (IKBKAP, FD, HSANIII)
- Phone: 617-726-5721
REQUIRED FOR ALL ORDERS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
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.