Hereditary bone marrow failure syndromes (51-gene panel, NGS)
Code: 10153
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(49 genes)
- BRCA2
- BRIP1
- CSF3R
- CTC1
- DKC1
- ELANE
- ERCC4
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- G6PC3
- GATA2
- GFI1
- HAX1
- MPL
- NHP2
- NOP10
- PALB2
- RAD51C
- RBM8A
- RPL11
- RPL35A
- RPL5
- RPS10
- RPS19
- RPS24
- RPS26
- RPS7
- RTEL1
- RUNX1
- SBDS
- SBF2
- SLX4
- SRP72
- TERC
- TERT
- TINF2
- USB1
- VPS45
- WAS
- WRAP53
- XRCC2