Perforin

Perforin

Immunology

Perforin deficiency accounts for 30% of patients with familial HLH Other proteins that may be deficient in HLH are also available on request

1mls EDTA plus a healthy control sample. Please send 1ml extra EDTA for DNA storage

Samples should be less than 24 hours old. This test should only be undertaken under the direction of a Consultant Immunologist/ Senior Clinical Scientist. External referrals must be discussed with Dr Kimberly Gilmour (020 7813 8466) or her deputy and accompanied by a completed referral form (available on website)

5 days

Not applicable

Yes