Congenital sucrase-isomaltase deficiency (SI gene, NGS)

Code: 3327

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 (3 mL); [One tube for this test] IMPORTANT: The questionnaire completed by the requesting physician and the informed consent signed by the patient must be sent.

Sample stability

Refrigerated at 2-8 °C. Note: Samples must never be frozen. They must reach the laboratory within 48 hours of collection.

Turnaround time

33 working days

Preparation and notes

IMPORTANT: Request the questionnaire and the informed consent form from the laboratory.