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

R191

Alpha-1-antitrypsin deficiency

Test Group

Respiratory

Specialties

Clinical Genetics Gastroenterology Hepatology Respiratory Medicine Primary Care

Test code

R191.1

Test name

N/A

Target genes

SERPINA1 common mutations

Test scope

n/a

Test method/ technology

Targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Plasma concentration of alpha-1-antitrypsin below normal range, AND
1. Prolonged neonatal jaundice with an inconclusive alpha-1-antitrypsin phenotyping result, OR
2. Mutation analysis will inform reproductive choice, OR
3. Adult with cirrhosis or emphysema where a genetic diagnosis would influence management following an inconclusive alpha-1-antitrypsin phenotyping result

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

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