General

Periodic Fever and

Autoinflammatory Disorders
Inherited autoinflammatory conditions are a wide-ranging group of genetic conditions that cause
symptoms including fever, rash, or headache in the absence of an infection. Pain in the abdomen,
chest, and joints is also common. Some of these conditions cause inflammation of body parts
including the eyes, heart, joints, throat, and digestive tract. Depending on the specific condition,
symptoms may start early in life or not until adulthood. Along with autoinflammatory symptoms,
patients with certain pathogenic (disease-causing) variants may have a wide range of findings
including developmental delay or intellectual disability, hearing loss, heart problems, or
bone problems.

WHAT CAUSES PERIODIC FEVER

AND AUTOINFLAMMATORY DISORDERS?
There are many possible causes for autoinflammatory and periodic
fever disorders and they include genetic and non-genetic factors.
Many of the genetic causes result from pathogenic variants that
result in irregular function of the immune system, causing the
immune system to activate without the threat of infection. Other
causes are due to multiple genes working together and interacting
with environmental factors; testing is not yet available for this type of
genetic cause.

TYPES OF PERIODIC FEVER AND AUTOINFLAMMATORY DISORDERS

Periodic fever and autoinflammatory disorders may be isolated (occurring with no other symptoms) or
as one of several features of a more complex genetic syndrome. Conditions associated with Periodic
fever and autoinflammatory disorders include but are not limited to:
• Familial Mediterranean Fever • TRAPS (Tumor Necrosis Factor Receptor-
• PAPA (Pyogenic Sterile Arthritis, Associated Periodic Synderome)
Pyoderma Gangrenosum, and Acne) • Aicardi-Goutieres syndrome
syndrome • Mevalonate kinase deficiency

WHO IS THIS TEST FOR?

This panel may be appropriate for anyone who has a personal or family history of unexplained
fevers, rash, or pain and inflammation.

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 General

BENEFITS OF GENETIC TESTING

Genetic testing for Periodic Fever and Autoinflammatory Disorders can:

• Establish or confirm the appropriate • Inform family members about their own
diagnosis risk factors
• Identify risks for additional health-related • Connect patients to relevant resources &
symptoms support
• Assist in modifying lifestyle changes, • Provide options for family planning
including diet and exercise
• Result in more personalized symptom
management

RELATED PANELS

• Aicardi-Goutieres Syndrome NGS Panel • Neutropenia NGS Panel

• Comprehensive Primary Immunodeficiency NGS

TEST SPECIFICATIONS

Acceptable Sample Requirements Reporting

• Blood, two 4-mL EDTA tubes, lavender top VUS, likely pathogenic, and pathogenic variants
• Extracted DNA, 3 μg in EB buffer Customization
• Buccal swab or saliva Customizable gene list, VUS opt-out
Turnaround Time 3-5 weeks
Coverage ≥96% at 20x

GET CONNECTED
National Organization for Rare Disorders - rarediseases.org/rare-diseases/familial-
mediterranean-fever
Genetics Home - https://medlineplus.gov/genetics/condition/familial-mediterranean-fever
American College of Rheumatology - rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-
Conditions/Familial-Mediterranean-Fever
Autoinflammatory Alliance - raccuk.com

REFERENCES
• Di Donato G, d’Angelo DM, et al. Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives. Int J Mol Sci. 2021 Jun
14;22(12):6360. PMID: 34198614.
• Shohat M. Familial Mediterranean Fever. 2000 Aug 8 [Updated 2016 Dec 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors.
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

2901 Dutton Mill Rd., Suite 100, Aston, PA 19014 | www.brooksidegenomics.com | info@brooksidegenomics.com | P +1 610-872-6466 | CLIA: #39D019544
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General

A Patient’s Guide to Genetic Testing

What does a genetic test check for?

Genetic testing checks the order of one’s DNA sequence (coded by the letters A, T, G, C) in specific genes linked
to genetic conditions. Letters that were added, missing, or changed, are known as variants and can sometimes be
harmful to one’s health, increasing the risk for a genetic condition.

What are the potential results?

There are three possible results from genetic testing:

Positive
A pathogenic/likely pathogenic variant is detected in one’s DNA. This type of variant is known to increase
one’s risk of a genetic condition. Identifying the specific gene involved can help confirm a diagnosis, inform
screening and management, and reveal risk factors for an individual and/or their family.

Negative
No variation known to be associated with a genetic condition was detected in one’s DNA . While a result may
not show an increased risk for the condition(s) tested for, one can still be at risk for disease, especially if there is
a family history.

Variant of Uncertain Significance (VUS)

? A variant was detected in one’s DNA, however, not enough information is known about this variant to
determine whether or not it is known cause the condition(s) tested for. More research is needed to better
understand this variant.

What about family members?

Children, siblings, and parents of individuals who have a variant(s) identified in genetic testing could carry the same
variant(s) and benefit from testing. Regardless of whether or not a variant was identified, individuals can still be at an
increased risk for a genetic condition, especially with a family history.

Do genetic test results affect health insurance or employment?

No, the Genetic Information Nondiscrimination Act (GINA) was signed into law in 2008.
It protects individuals from discrimination by an employer or a health insurance company based on genetic
testing results and genetic information. GINA does not protect against life and disability insurance discrimination.
For more information on GINA, go to www.ginahelp.org.

Where can I learn more?

Medline Plus/Genetics Home Reference - medlineplus.gov/genetics/understanding
National Society of Genetic Counselors - nsgc.org

2901 Dutton Mill Rd., Suite 100, Aston, PA 19014 | www.brooksidegenomics.com | info@brooksidegenomics.com | P +1 610-872-6466 | CLIA: #39D019544
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