Who should be tested for VEXAS syndrome?
As a relatively newly discovered autoinflammatory disease, VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is associated with mutations in the UBA1 gene. Diagnosis of the disease relies on the testing of genetic mutation in patients.
What are the benefits of genetic testing?
Without knowing the mutation status of the UBA1 gene, the VEXAS syndrome patients are often misdiagnosed because the disease has many varieties of symptoms shared by other autoimmune and autoinflammatory diseases. Misdiagnosis may mislead the doctors to use the immunosuppressive drugs that are not likely to work on the VEXAS patients. This may also delay the patients that may benefit for other drugs that could provide more effective treatment of the disease. Research has shown the VEXAS-RP (Relapsed Polychondritis) has much greater mortality than the RP patients without VEXAS.
In addition, early detection of the disease at the early stage—when the UBA1 gene somatic mutation has not accumulated to a high frequency—may benefit for the patients monitoring and treatment management down the road.
Who should be tested for VEXAS syndrome?
Typically, patients who are suspected of having VEXAS syndrome by their doctors, including hematologists, rheumatologists, or even dermatologists should be tested for a mutation in the UBA1 gene. These patients may have shown symptoms such as recurrent fevers, skin rash, coughing and short breath, blood abnormalities, and other clinical features associated with the VEXAS syndrome.
The VEXAS syndrome researchers and experts also recommend the following groups of patients get tested for the UBA1 mutation:
- Patients with vasculitis, autoinflammatory diseases or RP, especially male patients with skin lesions
- Patients with MDS (myelodysplastic syndromes) and AD (autoimmune disorders) who have characteristic vacuoles in myeloid and erythroid precursor cells
Due to the complexity of the VEXAS syndrome, after all, the decision to test for VEXAS syndrome should be made by healthcare professionals. They have extensive expertise in evaluation of the patient’s symptoms in combination with the medical history and other disease factors of the patient.
If your research needs the VEXAS genetic test to screen your patients, we are happy to help you with our ultra-sensitive VEXAS test.
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Diagnosis of the VEXAS syndrome improves medical management of the disease and provides more effective treatment of the disease, although there is no cure currently. The diagnosis relies on the VEXAS syndrome genetic testing, a test for a mutation present in the UBA1...
What is VEXAS syndrome?
VEXAS syndrome, which stands for "Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic," is a rare and recently identified, chronically progressive autoinflammatory disorder. It was first described by Dr. Beck in a study published in the New England Journal of...
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Who should be tested for VEXAS syndrome?
As a relatively newly discovered autoinflammatory disease, VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is associated with mutations in the UBA1 gene. Diagnosis of the disease relies on the testing of genetic mutation in patients.
What are the benefits of genetic testing?
Without knowing the mutation status of the UBA1 gene, the VEXAS syndrome patients are often misdiagnosed because the disease has many varieties of symptoms shared by other autoimmune and autoinflammatory diseases. Misdiagnosis may mislead the doctors to use the immunosuppressive drugs that are not likely to work on the VEXAS patients. This may also delay the patients that may benefit for other drugs that could provide more effective treatment of the disease. Research has shown the VEXAS-RP (Relapsed Polychondritis) has much greater mortality than the RP patients without VEXAS.
In addition, early detection of the disease at the early stage—when the UBA1 gene somatic mutation has not accumulated to a high frequency—may benefit for the patients monitoring and treatment management down the road.
Who should be tested for VEXAS syndrome?
Typically, patients who are suspected of having VEXAS syndrome by their doctors, including hematologists, rheumatologists, or even dermatologists should be tested for a mutation in the UBA1 gene. These patients may have shown symptoms such as recurrent fevers, skin rash, coughing and short breath, blood abnormalities, and other clinical features associated with the VEXAS syndrome.
The VEXAS syndrome researchers and experts also recommend the following groups of patients get tested for the UBA1 mutation:
- Patients with vasculitis, autoinflammatory diseases or RP, especially male patients with skin lesions
- Patients with MDS (myelodysplastic syndromes) and AD (autoimmune disorders) who have characteristic vacuoles in myeloid and erythroid precursor cells
Due to the complexity of the VEXAS syndrome, after all, the decision to test for VEXAS syndrome should be made by healthcare professionals. They have extensive expertise in evaluation of the patient’s symptoms in combination with the medical history and other disease factors of the patient.
If your research needs the VEXAS genetic test to screen your patients, we are happy to help you with our ultra-sensitive VEXAS test.
NGS test for colorectal cancer to guide targeted therapy
Colorectal cancer (CRC) can develop from germline genetic mutations inherited from family or somatic mutations developed later in life. Our Optiseq™ colorectal cancer NGS for mutation detection panel covers genes associated with both hereditary and somatic mutations...
Detection of ROS1, RET, and ALK fusions in non-small cell lung cancer
ROS1 (c-ros oncogene 1), RET (rearranged during transfection), and ALK (anaplastic lymphoma kinase) are receptors of tyrosine kinases that play important roles in cell growth and differentiation. ROS1, RET or ALK fusion is formed by chromosomal rearrangements that...
Genetic Testing for the VEXAS Syndrome
Diagnosis of the VEXAS syndrome improves medical management of the disease and provides more effective treatment of the disease, although there is no cure currently. The diagnosis relies on the VEXAS syndrome genetic testing, a test for a mutation present in the UBA1...
What is VEXAS syndrome?
VEXAS syndrome, which stands for "Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic," is a rare and recently identified, chronically progressive autoinflammatory disorder. It was first described by Dr. Beck in a study published in the New England Journal of...
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Influenza and COVID-19: what are they in common? Currently, the two most important respiratory viruses the healthcare authority is paying attention to are SARS-COV-2 (causing COVID-19) and influenza A and B viruses (Flu A and B). The Flu A and B viruses (named by the...
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Cancer deaths due to failure of early detection According to the American Cancer Society researchers, it is estimated that there will be more than 600,000 people die of cancer, and 1.9 million new cancer cases in the US in 2021 alone. Seventy-one percent of the...