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