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Familial Hibernian Fever (TRAPS)

  • TNFRSF1A (TNF receptor superfamily 1A)
This disorder usually presents in childhood and is characterized by periodic fevers that last from a few days to several weeks, abdominal symptoms (pain, diarrhea/constipation, occasionally peritonitis), pleuritis, arthralgia, myalgia, conjunctivitis/periorbital edema, and tender, migratory, erythematous skin lesions. Patients with TRAPS generally do not respond to treatment with colchicine, although relief with corticosteroid treatment has been reported.

The analysis is performed on genomic DNA obtained from buccal swabs (GeneDx kits only) or a venous blood sample (2-5ml in EDTA). Mutation testing is performed by PCR amplification and bi-directional sequence analysis of exons 2 through 5. Carrier detection in relatives and prenatal diagnosis is available once the mutation in a family has been defined.

If interested in ordering testing for this gene as part of a comprehensive testing panel for periodic fever syndromes (including MEFV, TNFRSF1A, MVK, NLRP3 (CIAS1), ELANE (ELA2), PSTPIP1 and LPIN2), please click here.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
TNF, receptor, TRAPS, familial, periodic, fever, autoinflammatory, auto-inflammatory, inflammation, erythema, pain, arthritis, amyloidosis, FMF, TNFRSF1A, tumor necrosis factor, colchicine, corticosteroids

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