• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit



CD120a; FPF; MS5; TBP1; TNF-R; TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR1-d2; TNFR55; TNFR60; p55; p55-R; p60

Associated disorders

The TNFRSF1A gene is associated with autosomal dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (MedGen UID: 226899).

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Invitae tests that include this gene:

Pathogenic variants in the TNFRSF1A gene are the only known cause of TNF receptor-associated periodic syndrome (TRAPS) (PMID: 24282415).

The TNFRSF1A gene encodes the cell surface receptor TNFR1 (tumor necrosis factor receptor 1) that binds tumor necrosis factor alpha (TNF-alpha) and can lead to a number of different cellular outcomes, including apoptosis, induction of NF-kappaB signaling, and triggering of the inflammatory response (PMID: 24935411, 25169849).

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
TNFRSF1A NM_001065.3