Periodic Fever Panel, 6 Gene NGS Panel

Short Name: 6 Gene Fever Panel

Periodic fever syndromes are also known as Autoinflammatory disorders. Symptoms may include abdominal pain, joint pain, rash, and recurring fever that is not associated with an infectious cause. Children as well as adults can be affected. Treatment aimed at prevention of symptoms is available for many of the periodic fever syndromes. The specific treatment is dependent on which gene is involved.

This Periodic Fever, 6 Gene NGS Panel includes the most common periodic fever genes; MEFV, MVK, NLRP12, NLRP3, NOD2, and TNFRSF1A. Sequence errors are the primary type of disease-causing variant in these 6 genes and as such will be detected by this test if present. The chance of finding a disease-causing variant varies with ethnic background and specific symptoms.

The OMIM gene number links to complete disease summaries. An expanded Periodic Fever NGS Panel for coverage of an additional 4 genes is also available.

CPT Code: 81408
Turn-Around Time: 4 weeks

Gene NameOMIM #
MEFV608107
MVK251170
NLRP12609648
NLRP3606416
NOD2605956
TNFRSF1A191190

Additional Information:

Disorder Names:

Blau Syndrome
Familial Cold Autoinflammatory Syndrome
Familial Mediterranean Fever
Familial Periodic Fever/TRAPS
Hyper-IgD Syndrome
Mevalonic Aciduria
Yao Syndrome