Periodic Fever Panel, 10 Gene NGS Panel
Short Name: 10 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, 10 Gene NGS Panel includes the following 10 periodic fever genes: ADA2, MEFV, MVK, NLRC4, NLRP3, NLRP12, NOD2, PSMB8, TNFRSF1A, and UBA1. Sequence errors are the primary type of disease-causing variant in these genes and will be detected by this test if present. The chance of finding a disease-causing variant varies with ethnic background and specific symptoms. All protein-coding exons and their corresponding splice sites of the 10 genes are subject to sequencing analysis for causative variant identification. This testing does not detect large copy number changes, chromosomal structural abnormalities, or deep intronic variants.
For more information on each gene, click the OMIM links below.
CPT Code: 81408
Turn-Around Time: 4 weeks
Gene Name | OMIM # |
---|---|
ADA2 | 607575 |
MEFV | 608107 |
MVK | 251170 |
NLRC4 | 606831 |
NLRP3 | 606416 |
NLRP12 | 609648 |
NOD2 | 605956 |
PSMB8 | 177046 |
TNFRSF1A | 191190 |
UBA1 | 314370 |
Additional Information:
Disorder Names:
Autoinflammation with Infantile Enterocolitis
Blau Syndrome
Cryopyrin-Associated Periodic Syndrome
Familial Cold Autoinflammatory Syndrome
Familial Mediterranean Fever
Familial Periodic Fever/TRAPS
Hyper-IgD Syndrome
Mevalonic Aciduria
Proteasome-Associated Autoinflammatory Syndrome-1
Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome
VEXAS Syndrome
Yao Syndrome