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Cystic kidney diseases (46-gene panel, NGS)

Code: 11297

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)

  • AHI1
  • ARL6
  • B9D1
  • B9D2
  • BBS1
  • BBS10
  • BBS12
  • BBS2
  • BBS4
  • BBS5
  • BBS7
  • BBS9
  • C8orf37
  • CC2D2A
  • CEP290
  • GLIS3
  • HNF1B
  • HNF4A
  • INVS
  • IQCB1
  • LZTFL1
  • MKKS
  • MKS1
  • MUC1
  • NPHP1
  • NPHP3
  • NPHP4
  • OFD1
  • PKD1
  • PKD2
  • PKHD1
  • RPGRIP1
  • RPGRIP1L
  • SDCCAG8
  • TCTN1
  • TCTN2
  • TMEM138
  • TMEM216
  • TMEM67
  • TRIM32
  • TSC1
  • TSC2
  • TTC8
  • UMOD
  • VHL
  • WDPCP

Specialties

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