DFNB59 Nonsyndromic Deafness
Gene: DFNB59/PJVK
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