Neurogenetics DNA Diagnostic Laboratory: Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy Type 2A (WNK1, HSAN2A)
- Phone: 617-726-5721
REQUIRED FOR ALL ORDERS
FORMS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
CREDENTAILS
- CLIA #22DO883928
- New York State #CQP4866
- CLIA Certificate
- NY License, Sims
- NY License Xin
- Maryland License
Test Description
DNA mutation analysis of the WNK1 gene using PCR amplification and direct DNA sequencing of the coding regions. Various WNK1 mutations have been reported in patients with HSAN.
Sample Preparation: Sample Preparation (PDF)
Results
Results of DNA analysis will be communicated in a written report to the referring professional.
Reasons
DNA analysis is appropriate for the study of affected patients, for diagnostic confirmation in a suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband.
Updated 8/6/2012
