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Congenital cataract (46-gene panel, NGS)

Code: 10084

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)

  • AGK
  • ALDH18A1
  • BFSP1
  • BFSP2
  • CHMP4B
  • CRYAA
  • CRYAB
  • CRYBA1
  • CRYBA2
  • CRYBA4
  • CRYBB1
  • CRYBB2
  • CRYBB3
  • CRYGB
  • CRYGC
  • CRYGD
  • CRYGS
  • CTDP1
  • EPHA2
  • ERCC6
  • EYA1
  • FOXE3
  • FTL
  • FYCO1
  • GALK1
  • GALT
  • GCNT2
  • GJA3
  • GJA8
  • HSF4
  • LEPREL1
  • LIM2
  • LSS
  • MAF
  • MIP
  • NHS
  • PAX6
  • PITX3
  • PXDN
  • SIL1
  • SLC16A12
  • SLC33A1
  • TDRD7
  • UNC45B
  • VIM
  • WFS1

Specialties

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