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Usher syndrome (20-gene panel, NGS)

Code: 10079

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(20 genes)

  • ABHD12
  • GPR98
  • ARSG
  • CDH23
  • CIB2
  • CLRN1
  • COL4A6
  • GIPC3
  • HARS
  • KARS
  • LHFPL5
  • LOXHD1
  • MYO7A
  • PCDH15
  • PDZD7
  • TNC
  • USH1C
  • USH1G
  • USH2A
  • DFNB31

Specialties

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