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Tumor Necrosis Factor Receptor-Associated Periodic syndrome (TRAPS) Sequencing Analysis

Tumor Necrosis Factor Receptor-Associated Periodic syndrome (commonly referred to as TRAPS) is a hereditary periodic fever syndrome. The former name of this syndrome was Familial Hibernian fever. TRAPS is associated with recurrent episodes of fever with variable duration from a few days to a few months. The frequency of episodes is also quite variable, occurring every 6 weeks in some individuals to every few years in other individuals. Features that can also be seen during episodes include abdominal pain, muscle pain, joint pain, rash and inflammation involving other areas of the body. Approximately 20% of individuals with TRAPS develop an abnormal buildup of the protein amyloid in the kidneys, called amyloidosis. This can result in kidney failure. Individuals with TRAPS typically do not respond to colchicine treatment.

Mutations in the TNFRSF1A gene are associated with TRAPS. TRAPS is inherited in an autosomal dominant manner; only one disease-associated mutation in the TNFRSF1A gene is need to cause features of the condition.

Test Name: TNFRSF1A Full Gene Sequencing Analysis
Test Code:
TNFRSF1A SEQ
Test Description:
Polymerase Chain Reaction (PCR) followed by sequence analysis of the entire coding region (10 exons) of the TNFRSF1A gene.

Sequence analysis may detect small intragenic deletions/insertions and missense, nonsense, and splice site mutations; however, exonic or whole-gene deletions/duplications are not detected by this method.
Synonyms:
TRAPS, Familial Hibernian Fever, Autosomal Dominant Familial Periodic Fever
Indication:
TNFRSF1A full gene sequencing is indicated for:
• Individuals with clinical features of TRAPS and a family history suggestive of autosomal dominant inheritance.

• Individuals with a clinical history suggestive of a periodic fever syndrome and negative genetic testing of other genes associated with periodic fever syndrome, such as MEFV.
Related Tests: MEFV Full Gene Sequencing Analysis  

TNFRSF1A Full Gene Sequencing Analysis  

Clinical Links: Tumor Necrosis Factor Receptor-Associated Periodic syndrome (TRAPS) Genetics Home Reference
Availability:
Monday – Friday
Turnaround Time:
2-3 weeks
Methodology:
PCR followed by DNA sequencing
Reference Range:
Interpretive report will be provided
Requisition:
Consent Form:
Sample Requirements: Type
Whole blood: 1-3 mL in EDTA (purple top) or ACD (yellow top). DNA: 5 micrograms extracted DNA.

Processing
Do not spin. Keep at room temperature.

Shipping
Room temperature via overnight shipping.
Samples Received:
Monday - Friday 8am - 5pm PST
Special Considerations:
None
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions.
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions.