PHOX2B gene testing (NGS, MLPA)

Code: 3535

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

Method

Next-generation sequencing (NGS) + MLPA

Collection requirements

EDTA: Blood (10 mL)

Sample stability

Refrigerated at 2-8 °C

Turnaround time

33 working days

Preparation and notes

IMPORTANT: 1. Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. 2. The questionnaire completed by the requesting physician and the informed consent signed by the patient must be sent. 3. Clinical history and family history are mandatory.