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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

Specialties

Book a collection