Bardet-Biedl syndrome (23-gene panel, NGS)
Code: 10076
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(23 genes)
- ARL6
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- CCDC28B
- CEP290
- IFT27
- LZTFL1
- MKKS
- MKS1
- SCAPER
- SDCCAG8
- TMEM67
- TRIM32
- TTC21B
- TTC8
- WDPCP