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

Additional Information