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Leber congenital amaurosis (21-gene panel, NGS)

Code: 10223

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(21 genes)

  • AIPL1
  • CABP4
  • CEP290
  • CRB1
  • CRX
  • GDF6
  • GUCY2D
  • IMPDH1
  • IQCB1
  • KCNJ13
  • LCA5
  • LRAT
  • NMNAT1
  • OTX2
  • PRPH2
  • RD3
  • RDH12
  • RPE65
  • RPGRIP1
  • SPATA7
  • TULP1

Specialties

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