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.

Neonatal diabetes

Clinical Indication ID & Name

R143

Neonatal diabetes

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology Genomics Laboratory Neonatology

Test code

R143.1

Test name

N/A

Target genes

ABCC8; KCNH11

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

All patients diagnosed with diabetes diagnosed less than 9 months of age

Marked hyperglycaemia is common in very preterm patients due to an immature pancreas. These individuals should be referred for genetic testing only if hyperglycaemia requiring insulin treatment is still present at 32 weeks equivalent gestational age.

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

R143.3

Test name

N/A

Target genes

6q24

Test scope

n/a

Test method/ technology

Methylation testing

Optimal Family Structure

n/a

Eligibility Criteria

All patients diagnosed with diabetes diagnosed less than 9 months of age

Marked hyperglycaemia is common in very preterm patients due to an immature pancreas. These individuals should be referred for genetic testing only if hyperglycaemia requiring insulin treatment is still present at 32 weeks equivalent gestational age.

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

R143.4

Test name

N/A

Target genes

Diabetes - neonatal onset (293)

Test scope

n/a

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

All patients diagnosed with diabetes diagnosed less than 9 months of age

Marked hyperglycaemia is common in very preterm patients due to an immature pancreas. These individuals should be referred for genetic testing only if hyperglycaemia requiring insulin treatment is still present at 32 weeks equivalent gestational age.

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

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

Molecular, Cytogenetic, Neurogenetic and NIPD Test Request Form Molecular, Cytogenetic, Neurogenetic and NIPD Test Request Form RD WGS Request Form

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form