Neurogenetics DNA Diagnostic Laboratory: Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy Type 2A (WNK1, HSAN2A)

  • Phone: 617-726-5721

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