Familial hemophagocytic lymphohistiocystosis 1


Description

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. Download the referral form >


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. 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

PRF1


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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