Hyperphenylalaninemia due to BH4 deficiency (5-gene panel, NGS)

Code: 10994

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

Method

Next-generation sequencing (NGS)

Collection requirements

EDTA: Blood (10 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.