Clinical Indication ID & Name
Glucokinase-related fasting hyperglycaemia
Test Group
Endocrinology
Specialties
Test code
R142.1
Test name
N/A
Target genes
GCK
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Fasting glucose noted to be raised ≤35 years
AND
Asymptomatic stable fasting hyperglycaemia (5.5-8mmol/L) (minimum 2 independent laboratory fasting blood glucose test results)
OR
HbA1c 36-58mmol/mol (5.5-7.5%)
In pregnancy
a) Gestational diabetes with fasting glucose 5.5-8mmol/l.
AND
b) BMI <30kg/m2
if white, or BMI <27kg/m2, if high prevalence type 2 diabetes ethnic group.
Features that support a diagnosis in pregnancy: persistent fasting hyperglycaemia post pregnancy or previous babies with normal birthweight despite maternal hyperglycaemia.
HbA1c and fasting glucose results must be available prior to genetic testing.
Commissioning group
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
Rare Disese WGS Clinician pack
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