Microcephaly (75-gene panel, NGS)
Code: 3315
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(75 genes)
- AKT3
- ANKLE2
- AP4M1
- ARFGEF2
- ASNS
- ASPM
- ASXL3
- ATR
- ATRIP
- ATRX
- CASK
- CDC45
- CDC6
- CDK5RAP2
- CDK6
- CDT1
- CENPE
- CENPF
- CENPJ
- CEP135
- CEP152
- CEP63
- CHMP1A
- CRIPT
- DNA2
- DYRK1A
- EFTUD2
- GMNN
- IER3IP1
- KATNB1
- KIF11
- KIF14
- KIF2A
- KIF5C
- KNL1
- MAP11
- MCPH1
- MED17
- MFSD2A
- MSMO1
- NDE1
- NHEJ1
- NIN
- NSMCE2
- ORC1
- ORC4
- ORC6
- PCNT
- PHC1
- PHGDH
- PLK4
- PNKP
- PSAT1
- PSPH
- PYCR2
- QARS1
- RBBP8
- RNU4ATAC
- SASS6
- SLC25A19
- STAMBP
- STIL
- TRAIP
- TRMT10A
- TUBA8
- TUBB
- TUBB2A
- TUBB2B
- TUBB3
- TUBG1
- TUBGCP4
- TUBGCP6
- WDR62
- ZEB2
- ZNF335