Kabuki syndrome (KMT2D gene, familial variant) [amniotic fluid]

Code: 3212

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

Method

Sequencing

Collection requirements

Amniotic fluid (5 mL) + EDTA: Blood from the mother (5 mL)

Sample stability

Refrigerated at 2-8 °C

Turnaround time

24 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.