Genetic testing for autoimmune diseases
What do we analyse?
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What are autoimmune diseases?
Autoimmune diseases occur when the body’s natural defence system cannot distinguish between its own cells and external agents (bacteria, viruses, etc.). This failure of the immune system causes the body to mistakenly attack normal cells.
There are more than 80 types of autoimmune diseases affecting a wide range of body parts. The incidence and frequency of these diseases varies widely, and for some types of diseases is higher in certain populations.
An autoimmune disorder may cause: destruction of body tissue, abnormal growth of an organ, or changes in organ function.
An autoimmune disorder may affect one or more types of organs or tissues, mainly: blood vessels, connective tissues, endocrine glands (thyroid, pancreas), joints, muscles, red blood cells and skin.
What genetic tests for autoimmune diseases do we offer at Genosalut?
At Genosalut we offer different genetic tests for the detection of variants associated with an increased risk of autoimmune diseases, including ankylosing spondylitis, Reiter’s syndrome and Behçet’s disease. These tests include: risk allele analysis, panels, exome analysis and genome analysis.
Study of allelic variants associated with an increased risk of certain autoimmune diseases.
Thanks to the sequencing of all genes using next generation sequencing (NGS) techniques, we can determine the presence of variants associated with autoimmune diseases.
Thanks to the sequencing of all coding (gene) and non-coding regions using next generation sequencing (NGS) techniques, we can determine the presence of variants associated with autoimmune diseases.
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What role do genetics play in autoimmune diseases?
The causative factors for most autoimmune diseases are a genetic predisposition and environmental triggers that alter the immune system’s ability to ignore a person’s own tissues and cells.
- Rarely, an autoimmune disease is monogenic, caused by mutations in a single gene.
- Most often, autoimmunity is polygenic, with genetic risk determined by the interaction of numerous genes and multifactorial (environmental factors in addition to genes).
- There are some autoimmune diseases (ankylosing spondylitis, Behçet’s disease) for which allelic variants have been found to be associated with an increased risk of the disease. Although these alleles are not the cause of these pathologies, their prevalence is higher in affected patients.
Despite the different types of autoimmune diseases, many of them share similar symptoms. The most common symptoms of autoimmune diseases are
- Joint pain and swelling
- Skin problems
- Abdominal pain or digestive problems
- Recurrent fever
- Swollen glands
There are different degrees of autoimmune disease. Symptoms of autoimmune disease can be severe in some people and mild in others. Severity is likely related to multiple factors including genetics, environment and personal health.
- Addison’s disease
- Celiac disease
- Graves’ disease
- Hashimoto’s thyroiditis
- Multiple sclerosis
- Myasthenia gravis
- Pernicious anaemia
- Reactive arthritis
- Rheumatoid arthritis
- Sjögren’s syndrome
- Systemic lupus erythematosus
- Type I diabetes
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