OVERVIEW
Fever is a common symptom in childhood, which is not always caused by a common infection. If infections, autoimmune and malignant diseases have been excluded, a congenital/hereditary periodic fever (HPF) syndrome may be present. HPF syndromes belong to the autoinflammatory diseases caused by a defective regulation of the innate immune response. HPF syndromes are characterized by recurrent fever attacks accompanied by a systemic inflammatory reaction (elevated CRP, serum amyloid protein A), which particularly affects the skin, mucous membranes, serous interfaces and joints and can lead to secondary amyloidosis in some diseases. Syndromes included are cryopyrin-associated periodic fever syndromes, familial Mediterranean fever, hyper-IgD syndrome and tumor necrosis factor receptor 1-associated periodic syndrome. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for fever syndromes. The test can offer a molecular genetic diagnosis of a fever syndrome that is observed or predicted in you or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of a fever syndrome, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.
You have a clinical diagnosis for
an autoinflammatory disease
You/your child has periodic fever
without an infection, immunodeficiency
or other rheumatic conditions
You have a family history
of fever syndromes
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.
