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.

POLG-related disorder

Clinical Indication ID & Name

R315

POLG-related disorder

Test Group

Mitochondrial

Specialties

Clinical Genetics Metabolic Medicine Neurology

Test code

R315.1

Test name

N/A

Target genes

Common POLG mutations

Test scope

n/a

Test method/ technology

Targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of a POLG-related disorder (including status epilepticus and other severe intractable epilepsy with other suggestive features)

Test code

R315.2

Test name

N/A

Target genes

Common POLG mutations

Test scope

n/a

Test method/ technology

Targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of a POLG-related disorder (including status epilepticus and other severe intractable epilepsy with other suggestive features)

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form