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.

Familial hypercholesterolaemia

Clinical Indication ID & Name

R134

Familial hypercholesterolaemia

Test Group

Core

Specialties

Cardiology Chemical Pathology Clinical Genetics Metabolic Medicine Paediatrics

Test code

R134.1

Test name

N/A

Target genes

Familial hypercholesterolaemia – targeted panel (772)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Dutch (or Welsh) lipid clinic score >5, OR
Simon Broome criteria indicate possible FH (following assessment in a specialist Lipid Clinic or Familial Hypercholesterolaemia service)

Test code

R134.2

Test name

N/A

Target genes

LDLR

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Dutch (or Welsh) lipid clinic score >5, OR
Simon Broome criteria indicate possible FH (following assessment in a specialist Lipid Clinic or Familial Hypercholesterolaemia service)

Commissioning group

Core

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 RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form