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Facial dysostosis (27-gene panel, NGS)

Code: 10746

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(27 genes)

  • ALPL
  • ALX3
  • ALX4
  • CHD7
  • CREBBP
  • DHODH
  • DLL3
  • EFNB1
  • EFTUD2
  • EHMT1
  • EP300
  • EVC
  • EVC2
  • HDAC8
  • HSPG2
  • LIFR
  • MYCN
  • NIPBL
  • POLR1C
  • POLR1D
  • SF3B4
  • SMC1A
  • SMC3
  • SRCAP
  • TCOF1
  • TWIST1
  • UBE2A

Specialties

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