Autoimmune lymphoproliferative syndrome


ALPS is a rare immunodeficiency disorder associated with inherited mutations in the TNFRSF6 gene encoding FAS (also known as Apo-I or CD95) receptor protein (ALPS type IA). Most patients have ALPS type IA due mainly to dominant-negative highly penetrant mutations in the FAS death domain encoded by exon 9 of the TNFRSF6 gene.

Also known as


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

Patients should initially be referred to Prof. Adrian Thrasher (Molecular Immunology, Institute of Child Health tel.: +44 (0) 20 7813 8490 email: for clinical assessment prior to any testing. Affected patients will be referred to the Molecular Immunology laboratory at GOSH for T cell analysis. This requires prior arrangement and completion of specific request forms (contact Dr Kimberly Gilmour in Molecular Immunology, GOSH � Tel: +44 (0) 20 7829 8835, Email: We liaise closely with this department and will undertake mutation screening in appropriate patients. Error parsing XSLT file: \xslt\TestDetailsFileLink.xslt

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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