Spondyloocular Syndrome (SOS)
Gene: XYLT2
Protein: xylosyltransferase II
Clinical Characteristics
- Skeletal findings:
- Osteopenia or osteoporosis predisposing to multiple vertebral compression fractures and long-bone fractures
- Platyspondyly
- Kyphosis
- Sensorineural hearing loss
- Vision impairment:
- Cataracts
- Retinal detachment
- Cardiac defects:
- Atrial septal defect
- Mitral valve prolapse
- Learning difficulties in some individuals
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 XYLT2 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.
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: $700
Known Variant Testing
- Code: 81479
- Cost: $225