Genetic testing for iron overload disorders
Code: 3340
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(20 genes)
- ATN1
- ATP13A2
- ATP7B
- C19orf12
- COASY
- CP
- DCAF17
- FA2H
- FTL
- FUCA1
- HPRT1
- KIF1A
- PANK2
- PLA2G6
- SQSTM1
- TAF1
- TRIM32
- VPS13A
- WDR45
- XK