Stickler syndrome is a group of hereditary conditions characterised by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
Diagnostic: Next Generation Sequencing of COL2A1: $1,000
Predictive: Testing $250 (Targeted Variant Testing by Sanger Sequencing)
Diagnostic: 12 weeks
Predictive: 4-6 weeks
EDTA blood: Adult: 2 x 5 ml
Amniotic Fluid 20ml
Chorionic Villus 20mg
Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.