11-beta-hydroxylase deficiency (CYP11B1 gene, sequencing) [congenital adrenal hyperplasia]

Code: 3254

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

Method

Sanger sequencing

Collection requirements

EDTA: Blood (5 mL)

Sample stability

Refrigerated at 2-8 °C

Turnaround time

28 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.