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.

Genes tested