Hydrocephalus (WES-based panel, NGS, CNVs)

Code: 3479

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

Method

Next-generation sequencing (NGS) + CNVs

Collection requirements

Biological fluids: EDTA: Blood (10 mL); Amniotic fluid [10 mL] + EDTA: Maternal blood (5 mL)

Sample stability

Refrigerated at 2-8 °C

Turnaround time

30 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. The prenatal studies questionnaire (studies on amniotic fluid) or postnatal studies questionnaire (studies on blood), completed by the requesting physician, and the informed consent signed by the patient must be sent. For prenatal studies, add code 3048 - Exclusion of maternal contamination.