DFNB59 Nonsyndromic Deafness


Protein: pejvakin

Clinical Characteristics

  • Sensorineural hearing loss with or without auditory neuropathy spectrum disorder:
    • Bilateral
    • Congenital or prelingual
    • Can be stable or progressive

Inheritance pattern: Autosomal recessive

What Can Be Learned From This Test

Testing is performed by sequencing all exons and the surrounding intronic regions of the DFNB59/PJVK gene. This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication. To date, no large deletions or duplications have been reported.

A negative test result does not rule out a genetic cause of hearing loss. Other genes are known to be associated with hearing loss and this test will only detect mutations in the DFNB59/PJVK gene. 

Sample Requirements

Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).

Turnaround time: 10-14 business days

CPT Codes and Cost

Full Gene Sequencing

  • Code: 81405
  • Cost: $600

Known Variant Testing

  • Code: 81479
  • Cost: $225

Additional Information