Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Monogenic diabetes

Clinical Indication ID & Name

R141

Monogenic diabetes

Test Group

Endocrinology

Test code

R141.1

Test name

N/A

Target genes

Monogenic diabetes (472)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

1. Patients with isolated diabetes should be tested if they have:
a. Diabetes diagnosed young (≤35 years in White Europeans and ≤30 years in high prevalence ethnic groups).
AND
b. Unlikely to have Type 1 diabetes because:
They are not on insulin treatment.
OR
They are on insulin treatment with all autoantibodies tested negative (minimum testing of GADA and IA2A) and a random non-fasting C peptide value ≥200pmol/l
AND
c. Have features suggestive of MODY:
An HbA1c at diagnosis of diabetes <7.5% (58mmol/mol), if diagnosed under 18 years of age, OR BMI <30kg/m2 adult (child BMI <95th centile) and a parent with diabetes (if White) or BMI <27kg/m2 (child BMI <95th centile) and a parent with diabetes (if high prevalence type 2 diabetes ethnic group). OR Have a MODY probability score ≥20% if not insulin treated and ≥10% if insulin treated (see https://www.diabetesgenes.org/exeter-diabetes-app/ModyCalculator) 2. Syndromic diabetes: Patients with diabetes AND non-autoimmune extra-pancreatic features • Diabetes diagnosed young AND • Unlikely to have type 1 diabetes (see 1b) or type 2 diabetes. AND • Non-autoimmune extra pancreatic features suggestive of syndromic monogenic diabetes e.g. • Cystic renal disease and/or congenital anomaly of kidney or urinary tract • Bilateral sensorineural deafness • Developmental delay • Developmental defects • Cardiomyopathy • Optic atrophy • Microcephaly 3. Diabetes with severe insulin resistance • Patients have features of severe insulin resistance in the absence of obesity: • Acanthosis nigricans OR • A fasting insulin >150pmol/l if not insulin treated OR if insulin treated an insulin requirement >3U/kg/day
AND
• Diabetes that is unlikely to be type 1 diabetes (see 1.0 above) or type 2
diabetes (BMI<30kg/m2 if white (<95th in children) or BMI <27kg/m2 (<95th in children) if high prevalence type 2 diabetes group).

Test code

R141.2

Test name

N/A

Target genes

GCK;HNF1A;HNF4A;HNF1B

Test scope

n/a

Test method/ technology

MPLA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Patients with isolated diabetes should be tested if they have:
a. Diabetes diagnosed young (≤35 years in White Europeans and ≤30 years in high prevalence ethnic groups).
AND
b. Unlikely to have Type 1 diabetes because:
They are not on insulin treatment.
OR
They are on insulin treatment with all autoantibodies tested negative (minimum testing of GADA and IA2A) and a random non-fasting C peptide value ≥200pmol/l
AND
c. Have features suggestive of MODY:
An HbA1c at diagnosis of diabetes <7.5% (58mmol/mol), if diagnosed under 18 years of age, OR BMI <30kg/m2 adult (child BMI <95th centile) and a parent with diabetes (if White) or BMI <27kg/m2 (child BMI <95th centile) and a parent with diabetes (if high prevalence type 2 diabetes ethnic group). OR Have a MODY probability score ≥20% if not insulin treated and ≥10% if insulin treated (see https://www.diabetesgenes.org/exeter-diabetes-app/ModyCalculator) 2. Syndromic diabetes: Patients with diabetes AND non-autoimmune extra-pancreatic features • Diabetes diagnosed young AND • Unlikely to have type 1 diabetes (see 1b) or type 2 diabetes. AND • Non-autoimmune extra pancreatic features suggestive of syndromic monogenic diabetes e.g. • Cystic renal disease and/or congenital anomaly of kidney or urinary tract • Bilateral sensorineural deafness • Developmental delay • Developmental defects • Cardiomyopathy • Optic atrophy • Microcephaly 3. Diabetes with severe insulin resistance • Patients have features of severe insulin resistance in the absence of obesity: • Acanthosis nigricans OR • A fasting insulin >150pmol/l if not insulin treated OR if insulin treated an insulin requirement >3U/kg/day
AND
• Diabetes that is unlikely to be type 1 diabetes (see 1.0 above) or type 2
diabetes (BMI<30kg/m2 if white (<95th in children) or BMI <27kg/m2 (<95th in children) if high prevalence type 2 diabetes group).

Commissioning group

Specialised

Overlapping idications

• R158 Lipodystrophy – childhood onset test should be used for congenital severe syndromic forms of lipodystrophy • R142 Glucokinase-related fasting hyperglycaemia test should be used for asymptomatic fasting hyperglycaemia

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

gos-tr.norththamesgenomics@nhs.net

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