Skip to content
Huo-Yan ExpressHuo-Yan Express
← Back to the catalogue

Congenital hyperinsulinism (18-gene panel, NGS)

Code: 10996

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)

  • ABCC8
  • ACAT1
  • FBP1
  • GCK
  • GLUD1
  • HADH
  • HMGCL
  • HMGCS2
  • HNF1A
  • HNF4A
  • INSR
  • KCNJ11
  • OXCT1
  • PCK1
  • PCK2
  • PDX1
  • SLC16A1
  • UCP2

Specialties

Book a collection