Facebook Pixel Code
Section banner image
Paediatric Laboratory Medicine

Preforin Gene Mutation Deletion by Direct Sequencing

Clinical Significance

Perforin is a cytolitic protein that is expressed in the cytoplasmic granules of cytotoxic T lymphocytes and natural killer (NK) cells. These cells are involved in cell-mediated cytotoxicity such as eliminating virally infected cells, anti-tumor immune responses, allograft rejections, and perforin has a key role in this important immune fuction. The ability to detect perforin-positive cells with specific antibody is useful in identifying clinical situations where perforin-mediated reactions play a role..

Test Name

Preforin Gene Mutation Deletion by Direct Sequencing

Gene Name

  • Perforin


Haematopathology- Molecular Haematology


Direct Sequencing/PCR

Turn Around Time

10 business days


Familial hemophagocytic lymphohistiocytosis (FHLH)

Specimen Type

Peripheral Blood/Bone marrow aspirate

Minimum Specimen Requirements

1 mL


Room Temperature

Special Requirements

Sample to be collected in EDTA (preservative).

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Phone: 416-813-7200
Phone: 1-855-381-3212