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Holoprosencephaly (12-gene panel, NGS)

Code: 11033

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(12 genes)

  • CDON
  • FGF8
  • FGFR1
  • FOXH1
  • GLI2
  • GLI3
  • NODAL
  • PTCH1
  • SHH
  • SIX3
  • TGIF1
  • ZIC2

Specialties

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