Sticklers Syndrome, Spondyloepiphyseal Dysplasia Congenita
Overview
Stickler syndrome is a group of hereditary conditions characterised by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
Category
Cost
Diagnostic: Next Generation Sequencing of COL2A1: $1,000
Predictive: Testing $250 (Targeted Variant Testing by Sanger Sequencing)
Reporting time
Diagnostic: 12 weeks
Predictive: 4-6 weeks
Contacts
Dr Belinda Chong
Phone (03) 9936 6550
Specimen Requirements
EDTA blood: Adult: 2 x 5 ml
Prenatal:
Amniotic Fluid 20ml
Chorionic Villus 20mg
Notes
Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.