Cystic kidney diseases (46-gene panel, NGS)
Code: 11297
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(46 genes)
- AHI1
- ARL6
- B9D1
- B9D2
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- C8orf37
- CC2D2A
- CEP290
- GLIS3
- HNF1B
- HNF4A
- INVS
- IQCB1
- LZTFL1
- MKKS
- MKS1
- MUC1
- NPHP1
- NPHP3
- NPHP4
- OFD1
- PKD1
- PKD2
- PKHD1
- RPGRIP1
- RPGRIP1L
- SDCCAG8
- TCTN1
- TCTN2
- TMEM138
- TMEM216
- TMEM67
- TRIM32
- TSC1
- TSC2
- TTC8
- UMOD
- VHL
- WDPCP