Meckel syndrome (13-gene panel, NGS)
Code: 11121
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(13 genes)
- B9D1
- B9D2
- CC2D2A
- CEP290
- KIF14
- MKS1
- NPHP3
- RPGRIP1L
- TCTN2
- TMEM107
- TMEM216
- TMEM231
- TMEM67