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Test ID: TNFRZ TNFRSF1A Gene, Full Gene Analysis

Useful For

Confirmation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) for patients with clinical features

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

Reporting Name

TNFRSF1A Gene, Full Gene Analysis

Specimen Type

Varies


Specimen Required


Forms:

1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Additional Information: Specimen preferred to arrive within 96 hours of collection.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a hereditary autoinflammatory disease that occurs most commonly, but not exclusively, in Northern European populations. TRAPS is characterized by recurrent febrile attacks and inflammation typically lasting 1 to 3 weeks. Accompanying clinical manifestations include abdominal pain, pleuritis, arthralgia, ocular involvement (conjunctivitis, periorbital edema, uveitis), myalgia, and cutaneous manifestations, usually migratory erythematous rash overlying areas of myalgia. Initial presentation most often occurs in childhood but age of onset can be variable and adult-onset cases have been described. Amyloid A (AA)-type amyloidosis is a serious long-term complication in some patients with TRAPS.

 

TRAPS is caused by mutations in the TNFRSF1A gene, a tumor necrosis factor receptor. TRAPS is inherited in an autosomal dominant fashion with reduced penetrance. Mutations in TNFRSF1A account for approximately 32% to 50% of familial cases of TRAPS, while only 2% to 10% of sporadic cases have an identifiable mutation in this gene. Limited genotype-phenotype correlations have been described, but mutations in cysteine residues are more likely to be associated with amyloidosis.

 

Patients with TRAPS often respond to corticosteroid treatment or anti-TNF therapy (etanercept) but are typically unresponsive to colchicine therapy.

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations will be evaluated according to the American College of Medical Genetics and Genomics (AMCG) recommendations.(1) Variants will be classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

2. Padeh S: Periodic Fever Syndromes. Pediatr Clin N Am 2005 Apr;52(2):577-609

3. Cantarini L, Lucherini OM, Muscari I, et al: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): State of the art and future perspectives. Autoimmun Rev 2012 Nov;12(1):38-43

Day(s) and Time(s) Performed

Performed weekly; Varies

Analytic Time

14 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479- Unlisted molecular pathology procedure code

LOINC Code Information

Test ID Test Order Name Order LOINC Value
TNFRZ TNFRSF1A Gene, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
53554 Result Summary 50397-9
53555 Result In Process
53556 Interpretation In Process
53557 Additional Information 48767-8
53558 Specimen In Process
53559 Source 31208-2
53560 Released By No LOINC Needed
Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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