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Bardet-Biedl syndrome (23-gene panel, NGS)

Code: 10076

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(23 genes)

  • ARL6
  • BBIP1
  • BBS1
  • BBS10
  • BBS12
  • BBS2
  • BBS4
  • BBS5
  • BBS7
  • BBS9
  • CCDC28B
  • CEP290
  • IFT27
  • LZTFL1
  • MKKS
  • MKS1
  • SCAPER
  • SDCCAG8
  • TMEM67
  • TRIM32
  • TTC21B
  • TTC8
  • WDPCP

Specialties

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