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
ALPS type IA, TNFRSF6, CD95
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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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Patients should initially be referred to Prof. Adrian Thrasher (Molecular Immunology, Institute of Child Health tel.: +44 (0) 20 7813 8490 email: Adrian.Thrasher@gosh.nhs.uk) 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: Kimberly.Gilmour@gosh.nhs.uk). We liaise closely with this department and will undertake mutation screening in appropriate patients.
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis