Phakomatoses (27-gene panel, NGS)
Code: 10073
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(27 genes)
- APC
- ATM
- DICER1
- EPCAM
- HRAS
- IKBKG
- LZTR1
- MLH1
- MSH2
- MSH6
- NF1
- NF2
- POT1
- PRKAR1A
- PTCH1
- PTCH2
- PTEN
- SMARCA4
- SMARCB1
- SMARCE1
- SPRED1
- SUFU
- TP53
- TSC1
- TSC2
- VHL
- WRN