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Achromatopsia (38-gene panel, NGS)

Code: 10139

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(38 genes)

  • ABCA4
  • ADAM9
  • AIPL1
  • ATF6
  • C21orf2
  • C8orf37
  • CABP4
  • CACNA1F
  • CACNA2D4
  • CDHR1
  • CEP290
  • CERKL
  • CNGA3
  • CNGB3
  • CNNM4
  • CRX
  • GNAT2
  • GUCA1A
  • GUCY2D
  • IFT81
  • KCNV2
  • PDE6C
  • PDE6H
  • PITPNM3
  • POC1B
  • PROM1
  • PRPH2
  • RAB28
  • RAX2
  • RDH5
  • RGS9
  • RGS9BP
  • RIMS1
  • RPGR
  • RPGRIP1
  • SEMA4A
  • TTLL5
  • UNC119

Specialties

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