Familial Periodic Fever/TRAPS (TNFRSF1A) Targeted Testing

AKA: Familial Hibernian Fever

Short Name: TNFRSF1A Targeted

Familial periodic fever (FPF) is caused by a variant in the tumor necrosis factor receptor-1 gene (TNFRSF1A). It is characterized by recurrent fever with localized myalgia and painful erythema. Arthralgia of large joints, abdominal pain, conjunctivitis, and periorbital edema are also common features of FPF. It is an autosomal dominant autoinflammatory disorder. The most common familial variant, c.362G>A (p.Arg121Gln) will be specifically analyzed by this targeted test.

CPT Code: 81403

Turn-Around Time: 1-2 weeks