Clinical Indication ID & Name
Congenital hyperinsulinism
Test Group
Endocrinology
Specialties
Test code
R144.1
Test name
N/A
Target genes
ABCC8; KCNH11
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Hypoglycaemia accompanied by one of the following, with no identifiable cause:
1. During an episode of hypoglycaemia there is a requirement for the glucose infusion to be at a rate of >8mg/kg/min, OR
2. Detectable serum insulin or c-peptide when the blood glucose is <3mmol/l, OR
3. Suppressed or undetectable serum fatty acids and ketone bodies
Where possible, clinicians are asked to submit samples from the probands parents for the DNA to be stored (R346) to allow follow-up of variants
Test code
R144.2
Test name
N/A
Target genes
Congenital hyperinsulinism (308)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Hypoglycaemia accompanied by one of the following, with no identifiable cause:
1. During an episode of hypoglycaemia there is a requirement for the glucose infusion to be at a rate of >8mg/kg/min, OR
2. Detectable serum insulin or c-peptide when the blood glucose is <3mmol/l, OR
3. Suppressed or undetectable serum fatty acids and ketone bodies
Where possible, clinicians are asked to submit samples from the probands parents for the DNA to be stored (R346) to allow follow-up of variants
Commissioning group
Highly Specialised
Overlapping idications
n/a
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form