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Tumor Necrosis Factor Receptor-Associated Periodic syndrome (TRAPS) Known Mutation 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 Known Mutation Analysis
Test Code:
TNFRSF1A KNWN
Test Description:
Analysis of the TNFRSF1A gene for known familial mutations.
Synonyms:
TRAPS, Familial Hibernian Fever, Autosomal Dominant Familial Periodic Fever
Indication:
This test is used for testing at-risk relatives and prenatal testing. Mutations must be known.
Related Tests: Maternal Cell Contamination - DNA  
Maternal DNA is compared to fetal DNA to evaluate whether maternal cell contamination of the fetal sample has occurred.

MEFV Full Gene Sequencing Analysis  

TNFRSF1A Full Gene Sequencing Analysis  

Clinical Links: Tumor Necrosis Factor Receptor-Associated Periodic syndrome (TRAPS) Genetics Home Reference
Availability:
Performed weekly. Not available stat
Turnaround Time:
2 weeks
Methodology:
PCR and 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: 5ug extracted DNA Prenatal Samples:2 T-25 flasks cultured cells (CVS or amnio)

Processing
Do not spin. Keep at room temperature

Shipping
Room temperature via overnight shipping. Blood samples MUST be processed within 3 days of collection. Ship cultured cells in appropriate media.
Samples Received:
Monday - Friday 8am - 5pm PST
Special Considerations:
For prenatal testing, maternal cell contamination testing is required (ordered separately).
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.