Diagnostic Tools/Genetic Testing

Updated 3/14/19


 Diagnostic Tools for Autoinflammatory Diseases

Genetic testing and other helpful resources for periodic fever syndromes.

Genetic Testing as a Diagnostic Tool

For many of the periodic fever syndromes/autoflammatory diseases, there is genetic testing available to help with diagnosis. Genetic testing for mutations on genes known to cause autoinflammatory diseases is also helpful to help rule out possible syndromes when making a clinical diagnosis. Often insurance will cover the full cost of these tests. Any doctor can order a genetic panel, it does not have to be a geneticist or specialist.

Since many of the autoinflammatory diseases share similar symptoms that may include recurrent high fevers, mouth ulcers, swollen lymph nodes, rashes, joint pain and/or swelling and other symptoms, running a fever panel that tests for multiple syndromes at once is both efficient and cost effective. It also reduces the chances of missing the cause of the symptoms or missing comorbid conditions when an individual patient has genetics for multiple autoinflammatory diseases.

The most common fever syndrome PFAPA does not have a genetic test, but ruling out fever syndromes that can have similar symptoms, such as HIDS, CAPS, FMF, Behcet-like familial autoinflammatory syndrome (HA20) and TRAPS is important when diagnosing PFAPA. Doctors Lawson and Hersh state, “The various periodic fever syndromes have overlapping symptoms; therefore, a definitive diagnosis of PFAPA cannot be made until other periodic fever syndromes have been excluded via genetic testing…

fever syndrome genetic testing

DNA photo by Mike_Kiev/Bigstockphoto.com

Immune Dysregulation Genetic Panels

There are several labs in the U.S. that have panels available for periodic fever syndromes and other immune dysregulation syndromes like immune deficiencies and autoimmune conditions. All use next generation DNA sequencing and are very accurate tests. These labs include Blueprint Genetics, Invitae, Fulgent, Prevention Genetics, MNG Labs, and GeneDx.

The larger panels by Blueprint Genetics and Invitae, offer the most comprehensive tests for several fever syndromes and other conditions that may have similar symptoms such as  recurring fevers, recurring inflammatory symptoms, and/or involve cytokine dysregulation. Some genes included in these panels are related to autoimmune diseases, immune deficiencies, and inflammatory bowel diseases which can all have symptoms similar to autoinflammatory syndromes.

GeneDx’s XomeDxSlice Tool is available for doctors to create a customized panel of up to 150 genes. Panels of more than 150 genes are an option with GeneDx clinical staff review. This is a more comprehensive and economical option then the 7-gene autoinflammatory panel offered by GeneDx.

autoinflamamtory databaseSystemic Autoinflammatory Diseases Database

Edited and Co-authored by Autoinflammatory Alliance President Karen Durrant, RN BSN and leading experts on autoinflammatory diseases, this free online database describes the notable symptoms of currently known autoinflammatory syndromes. This database has become a highly respected and important diagnostic tool for doctors around the world. Since these diseases can be very similar and have overlapping symptoms, the chart can help narrow down which SAIDs to consider for a patient and can help guide further testing.

Eurofever Classification Criteria

This diagnostic questionnaire by the EUROFEVER project is a quick quiz to help determine if CAPS, TRAPS, HIDS and FMF are possible in a patient based on symptoms.

Genetic Testing Registry

You can search this registry to find genetic testing available around the world here.

Finding Doctors

To find a doctor experienced with fever syndromes, contact the Autoinflammatory Alliance here.

Blueprint genetics has a series of helpful webinars in their Blueprint Academy series that you can watch to learn more about genetics.

The 10/25/18 webinar “Utility of genetic testing and application to immune-related disorders” is very helpful, and our org, the Autoinflammatory Alliance collaborated with Blueprint Genetics for that webinar. It features some examples of autoinflammatory diseases in the webinar.

Becoming an Empowered Patient: A Toolkit for the Undiagnosed

This kit put out by the Global Genes Project has everything you need to navigate the medical system when trying to find a diagnosis for any rare condition. It includes information on staying organized, how to talk to doctors, how to get your medical records, and much more.