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.
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
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.