Osteogenesis imperfecta (COL1A1 and COL1A2 genes, NGS)

Code: 3256

The availability and turnaround time of this test should be confirmed with the unit before collection.

Method

Next-generation sequencing (NGS)

Collection requirements

Biological sample: EDTA whole blood (5 mL), amniotic fluid + EDTA maternal whole blood (5 mL)

Sample stability

Refrigerated at 2-8 °C

Turnaround time

33 working days

Preparation and notes

IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. Clinical history and family history are mandatory.