Diagnostic Tools/Genetic Testing

Updated 10/23/20

 Diagnostic Tools for Autoinflammatory Diseases

Genetic testing and other resources for periodic fever syndromes diagnosis.

Invitae’s 407 gene panel (not currently listed on chart above – update coming soon) has the most comprehensive genetic testing panel for autoinflammatory at the lowest cost.Click here to see that panel.

Genetic Testing as a Diagnostic Tool

In Textbook of Autoinflammation published in 2019, Drs Ceccherini, Rusmini, and Arostegui state, “The importance of genetic tests to reach a definitive diagnosis has become evident during the past few years.” They also note that advancements in genetics, “has resulted in the increased awareness of the clinical diversity of these diseases, best therapeutic approaches and follow-up schemes for the patients…”

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 genetic 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. It’s been noted in research that, “A relevant number of patients with monogenic periodic fevers also meet the diagnostic criteria for PFAPA syndrome (Gattorno et al., 2008). In a preliminary experience, 83% of patients with MKD, 57% of patients with TRAPS, and 8% of patients with FMF satisfied the criteria for PFAPA syndrome.” Without genetic testing as part of the diagnosis these patients could easily be misdiagnosed and this may delay getting proper effective treatment.

Any doctor (including a pediatrician or primary care doctor) can order a genetic panel, and in the U.S. in most cases insurance will cover the costs of these tests as they are medical tests. But when needed, all labs have reasonable self-pay and payment plan options. Call the lab to find out your payment options. If you are outside the U.S., call the lab to find out the process for order a panel in your region.

fever syndrome genetic testing

DNA photo by Mike_Kiev/Bigstockphoto.com

Immune Dysregulation Genetic Panels Available

Several labs used in the U.S. and around the world have panels available that include periodic fever syndromes and other immune dysregulation syndromes, such as immune deficiencies, inflammatory bowel disease, and autoimmune conditions which can all have similar symptoms. All use next generation DNA sequencing, are very accurate tests, and can be ordered by doctors around the world. You can call the lab to find out the process for your region.

As of 2020 Invitae has the least expensive and most comprehensive immune dysregulaion panel for autoinflammatory diseases at only $250 for self pay* for 407 genes. It includes most all known autoinflammatory genes, 48 total, including some of the newer discovered syndromes. such as TNFAIP3, the gene for Behcet-like familial autoinflammatory syndrome and NLRP1-associated autoinflammation with arthritis and dyskeratosis. Invitae also has medical experts available to order genetic testing for patients at an additional cost. Click here to learn more about Invitae’s Genome Medical Experts.

*$250 is the self pay (no insurance used) price ONLY. When choosing to go through your insurance make sure you understand your insurance coverage, copay, deductibles and Invitae’s payment policies as insurance companies are billed up to $1500 according to Invitae’s website. Not all with high deductible plans have qualified for Invitae’s financial assistance.  Read more here.

Fulgent‘s immune dysregulation panel has 471 genes tested of which more than 40 genes are autoinflammatory. Some genes it does not include are the LYN gene and RIPK1 gene.

Blueprint Genetics‘ panel includes 298 genes with 40 genes associated with autoinflammatory diseases. Of the autoinflamamtory disease it is missing a few such as the TNFRSF11A (TRAPS11) and LYN genes.

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.

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.

Learn More About Genetic Testing

Blueprint genetics produced a series of informational 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 , a collaboration between the Autoinflammatory Alliance and Blueprint Genetics, features examples of autoinflammatory diseases.

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.