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Congenital central hypoventilation syndrome (18-gene panel, NGS)

Code: 10031

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(18 genes)

  • ASCL1
  • BDNF
  • CHAT
  • CHRNA1
  • CHRNB1
  • CHRND
  • CHRNE
  • COLQ
  • EDN3
  • GDNF
  • GLRA1
  • MECP2
  • PHOX2B
  • RAPSN
  • RET
  • SCN4A
  • SLC6A5
  • ZEB2

Specialties

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