Vitelliform macular dystrophy type 2 (BEST1 gene, NGS)

Code: 3308

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

Method

Next-generation sequencing (NGS)

Collection requirements

~1 cm2 of tissue in normal saline + ampicillin [1 g/L]

Sample stability

Refrigerated at 2-8 °C

Turnaround time

33 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. Clinical history and family history are mandatory.