Hermansky-Pudlak syndrome (18-gene panel, NGS)
Code: 11354
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 (10 mL)
- 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.
Genes tested(18 genes)
- ABCA3
- AP3B1
- BLOC1S6
- DTNBP1
- ELMOD2
- HPS1
- HPS3
- HPS4
- HPS5
- HPS6
- NKX2-1
- SFTPA1
- SFTPA2
- SFTPB
- SFTPC
- SFTPD
- TERC
- TERT