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Craniosynostosis (28-gene panel, NGS)

Code: 3306

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(28 genes)

  • CYP26B1
  • EFNB1
  • ERF
  • FAM20C
  • FGFR1
  • FGFR2
  • FGFR3
  • FREM1
  • GLI3
  • HUWE1
  • IFT122
  • IFT43
  • IL11RA
  • KAT6A
  • MEGF8
  • MSX2
  • POR
  • RAB23
  • RECQL4
  • RUNX2
  • SKI
  • TCF12
  • TGFBR1
  • TGFBR2
  • TMCO1
  • TWIST1
  • WDR19
  • WDR35

Specialties

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