Familial hemophagocytic lymphohistiocystosis (FHL) due to perforin gene defects is a rare autosomal recessive immunodeficiency characterised by defective or absent T and natural killer (NK) cell cytotoxicity. Affected individuals can be diagnosed on the basis of very low or absent perforin protein. The perforin gene, PRF1 has 3 exons of which exons 2 and 3 are coding. Mutations are found throughout the gene with some evidence of founder mutations.
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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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Affected patients should be referred to the Molecular Immunology laboratory at GOSH for perforin protein 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 work 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
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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