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.

Alpha-1-antitrypsin deficiency

Clinical Indication ID & Name


Alpha-1-antitrypsin deficiency

Test Group


Test code


Test name


Target genes

SERPINA1 common mutations

Test scope


Test method/ technology

Targeted mutation testing

Optimal Family Structure


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


Overlapping idications


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

Supporting documents


Education resources


Service updates


Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form