Deafness & Myopia Syndrome
Gene: SLITRK6
Protein: SLIT and NTRK-like family, member 6
Clinical Characteristics
- Sensorineural hearing loss:
- Bilateral
- Moderate to profound
- Congenital or prelingual
- Can present as auditory neuropathy spectrum disorder with progressive hearing loss
- High myopia:
- Diagnosed in infancy or early childhood
- Greater than -6 diopters
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 SLITRK6 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 SLITRK6, associated with deafness and myopia syndrome.
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: 81479
- Cost: $600
Known Variant Testing
- Code: 81479
- Cost: $225