Spondyloocular syndrome (SOS; MIM 605822) is an autosomal recessive disorder.  Skeletal findings include low bone mineral density, multiple long bone fractures, vertebral compression fractures, and generalized vertebral flattening. Other findings include cataracts, retinal detachment, nystagmus, sensorineural hearing loss, atrial septal defect, mitral valve prolapse, aortic valve dysplasia, and mild learning difficulties.read more

Tests Available

By gene: XYLT2
Next Generation Sequencing
Test Code: 2195
Deletion / Duplication
Test Code: 2196
NGS/Del Dup Comprehensive
Test Code: 2197

Test Details

Technical Information
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
Eye Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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