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.

Autoimmune lymphoproliferative syndrome with defective apoptosis

Clinical Indication ID & Name


Autoimmune lymphoproliferative syndrome with defective apoptosis

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure


Eligibility Criteria

Lymphoproliferative syndrome or other lymphoproliferative disorders consistent with FAS-related disease with:
• abnormal Fas-mediated apoptosis, OR
• elevated alpha beta double negative T cells, OR
• elevated sFAS, OR
• elevated Vitamin B12

Commissioning group


Overlapping idications

• R15 Primary immunodeficiency panel test should be used where clinical and laboratory features are not typical and a broader range of genes are potentially causative

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