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
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Next Generation Sequencing
$900
Test Code: 2195
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Deletion / Duplication
$900
Test Code: 2196
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2197
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Test Details
Technical Information
Genes:
XYLT2
Disease Groups:
Osteogenesis Imperfecta and Low Bone Density Disorders
Eye Disorders
MIM:
605822
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2195 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.