Neurofibromatosis type 1 (point mutation) [Amniotic fluid]

Code: 3147

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

Method

Sequencing

Collection requirements

Amniotic fluid (2 sterile plain tubes >7 mL) [Special tube for amniotic fluid - request from the laboratory] + EDTA: Blood (2 mL) from the mother

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. Note: Clinical information and family history must be sent. State the gestational age.