Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy Type 2B (FAM134B, HSAN2B)

  • Phone: 617-726-5721

Test Description

We are currently offering DNA mutation analysis of the FAM134Bgene using PCR amplification and direct DNA sequencing of the coding regions.  Various FAM134B 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.

Reason

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 8/2/2012