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.

Clinical Indication ID & Name

R172

Wilson disease

Test Group

Gastrohepatology

Specialties

Clinical Genetics Hepatology Metabolic Medicine Neurology Psychiatry Paediatrics

Test code

R172.1

Test name

N/A

Target genes

ATP7B

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

High suspicion of Wilson disease, as evidenced by some or all of low caeruloplasmin, high liver copper, high urinary copper, high free copper, Kayser–Fleischer rings

Commissioning group

Specialised

Overlapping idications

• R98 Likely inborn error of metabolism - targeted testing is not possible, R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with atypical features in whom a broader differential diagnosis is under consideration

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

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool