Also known as: Familial Hibernian Fever« Back to test list
Familial Hibernian Fever is caused by mutations in the TNFRSF1A gene, which encodes the Tumor Necrosis Factor Receptor 1 (TNFR1). This condition is also known as Tumor necrosis factor Receptor-Associated Periodic Syndrome (or TRAPS). This is an autosomal dominant disorder. Most disease-causing mutations in this gene are in exons 2,3, and 4 of the gene. This test result has diagnostic implications.
In an affected patient, an abnormal test result confirms the diagnosis of Familial Hibernian Fever. A normal test result does not exclude this clinical diagnosis.
This is an assay for heritable mutations. It may raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient. The interpretation of the result may also be dependent on the family history and the interpretation of other studies.
Analysis of exons 2, 3 and 4 of the TNFRSF1A gene.
This test can be requested by any medical practitioner.
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We also recommend that the patient or another adult check the labelling of request forms and sample tubes.
Consider other periodic fever syndromes FMF Screen.