Familial hemophagocytic lymphohistiocystosis 1


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.

Also known as

FHL2, Perforin

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

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.

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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