Hereditary periodic fever syndromes NGS gene panel

Diagnostic Use

Periodic fever syndromes refer to diseases that cause periodic (episodic) fever that do not have an infectious cause. In general, people with these syndromes are well between episodes. Many of these syndromes are hereditary and result from a genetic mutation. Familial Mediterranean fever (FMF) is the most common periodic fever syndrome. Patients suffer from recurrent episodes of fever, accompanied by abdominal, chest and joint pain, and swelling. The disease generally affects people of Mediterranean and Middle Eastern descent, typically Sephardic Jews, Turks, Arabs and Armenians. The responsible gene is called the MEFV gene which encodes a protein called pyrin, which plays a role in the natural control of inflammation. NLRP3 has also been implicated in FMF.
Other periodic fevers include:
Hyperimmunoglobulin D syndrome (HIDS), also called Mevalonate Kinase Associated Periodic Fever Syndrome, which is an autosomal recessive disorder caused by mutations in the MVK gene. The disease starts early in infancy. The most severe form of this disease starts at birth and is called mevalonic aciduria.
Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) - a genetic disease with an autosomal dominant inheritance, caused by mutations in TNFRSF1A.


Genetics - Molecular Pathology

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Constituent Tests



Turnaround Time

4 weeks

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