Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R144

Congenital hyperinsulinism

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old