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Early Detection of
Vexas Syndrome
DiaCarta’s QClamp® Plex VEXAS UBA1 Mutation Test can find VEXAS patients missed by other tests, ensuring timely and effective treatment with a short turnaround time.
What is VEXAS syndrome?
what is vexas syndrome
VEXAS syndrome most occurs in men aged 50 or above
Vexas syndrome happens 1/4,000 in men over 50
Vexas syndrome happens 1/26,000 in women "over 50
VEXAS Syndrome is a chronic, progressive autoinflammatory disease discovered in 2020. VEXAS stands for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. The disease is so named because it is associated with a common somatic mutation in the UBA 1 gene encoding for the E1 enzyme of ubiquitin, located on the X chromosome.
Recurring fever
Symptoms and Diagnosis
Symptoms and Diagnosis
The disease is often misdiagnosed or delayed due to multiple clinical manifestations in hematology, rheumatology, and dermatology, including recurring fever, painful skin rash, chondritis in the ear and nose, arthritis or joint pain, anemia, and maybe coughing or shortness of breath.
Recurring fever
Painful skin rash
Chondritis in the ear
Chondritis in the nose
Arthritis or joint pain
Anemia
Coughing
Shortness of breath
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Relapsed polychondritis
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MDS (myelodysplastic syndrome)
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Sweet Syndrome and hematological abnormalities, especially those with vacuoles
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Vasculitis
Importance of testing
Importance of Testing
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It has been reported that patients with VEXAS who carry the UBA1 mutation have a higher mortality rate (4.5-fold) than non-VEXAS patients with similar symptoms, such as MDS (myelodysplastic syndrome). Since patients with VEXAS Syndrome share many symptoms with other non-VEXAS patients, genetic testing of VEXAS Syndrome becomes critical to identify the VEXAS patients.
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Even among VEXAS patients, people carrying different mutations have different prognoses. The mutation has also helped patients' therapy stratification, although currently, there is no cure for the disease.
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Early detection may help early treatment, slow down progression and potentially extend patients‘ lives with the right therapy.
QClamp Plex
QClamp® Plex VEXAS UBA1 Mutation Test
DiaCarta has developed and fully validated a genetic test for VEXAS syndrome, called QClamp® Plex VEXAS UBA1 Mutation Test. The assay detects all the known mutations in the UBA1 gene associated with VEXAS syndrome. The assay uses DiaCarta’s proprietary QClamp® Plex technology to increase assay sensitivity and specificity.
Mutations in the UBA1 gene can be detected in the patient’s peripheral blood sample. There is no need to obtain bone marrow sample for the QClamp® Plex VEXAS UBA1 Mutation Test.
Early detection of UBA1 mutation
DiaCarta has leveraged the proprietary XNA technology to increase the assay sensitivity so the somatic UBA1 mutations can be detected even at low frequencies.
Cost-effective detection of UBA1 mutation
NGS panels detect multiple genes beyond the UBA1 mutation. However, only UBA1 gene mutations are related to VEXAS syndrome. Our testing method only detects the UBA1 gene mutation, thereby reducing the test cost.
Shorter turnaround time
Unlike NGS, our multiplex VEXAS
syndrome test has a shorter
turn-around time, and no bioinformatic analysis is necessary.
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