TRAPS screen
Also known as: Familial Hibernian fever
Test category:
Familial - Periodic fever; Immunology- Periodic fever
Use of test
Purpose:
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 (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.
Utility:
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.
Ethical considerations:
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. Use of the Sonic Genetics consent form (below) is not mandated, but could be used to guide the discussion with the patient.
In the case of carrier testing of an unaffected child, national regulations require that the laboratory has evidence of pre-test counselling by a genetics professional and written consent.
Consent form:
Download the Sonic Genetics consent form.
Methodology:
Analysis of exons 2, 3 and 4 of the TNFRSF1A gene.
Requesting the test
Ordering:
This test can be requested by any medical practitioner.
Sample required:
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare collection centre (see link below).
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 recommend that the patient or another adult check the labelling of request forms and sample tubes.
>Link to Sonic Healthcare collection centres
Special instructions:
Consider tests for other periodic fever syndromes such as FMF screen.
Turnaround time:
10 business days.
Price:
$273.
Rebate:
This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.