Albinism, isolated and syndromic forms (18-gene panel, NGS)
Code: 10194
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)
- GPR143
- OCA2
- SLC45A2
- TYRP1
- MC1R
- SLC24A5
- LYST
- HPS1
- AP3B1
- HPS3
- HPS4
- HPS5
- HPS6
- DCT
- DTNBP1
- BLOC1S5
- BLOC1S3
- BLOC1S6