Autoimmune lymphoproliferative syndrome


Description

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


Request a test

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


Additional information

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. Download additional information >


Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

40 days


Disease / group

FAS


Cost

Upon request


Call in advance?

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


Genetics

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

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