&lt;h2&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Overview&lt;/strong&gt;&lt;/span&gt;&lt;/h2&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;UBA1 Mutation Quantitative Detection is a test designed to accurately identify mutations in the UBA1 gene, which are associated with VEXAS syndrome, a complex inflammatory condition with varying severity. The test utilizes Droplet Digital PCR, a highly sensitive method, to detect these mutations. VEXAS syndrome presents with diverse symptoms, and detecting UBA1 mutations is crucial for its diagnosis. The testing accurately identifies seven of the most frequently occurring somatic mutations in the UBA1 gene, known to be linked with VEXAS (Vacuoles, E1-enzyme, X-linked, Autoinflammatory, Somatic) syndrome, a condition marked by varying degrees of inflammation. Patients with VEXAS syndrome often exhibit irregularities in blood counts and bone marrow, which may hint at myelodysplastic syndrome or other hematologic neoplasms. The detection of UBA1 mutation plays a crucial role in diagnosing VEXAS syndrome. Utilizing droplet digital polymerase chain reaction technology, this test demonstrates heightened analytical sensitivity compared to conventional testing methods.&lt;/span&gt;&lt;/p&gt;
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&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;WHAT IS IT USED FOR?&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
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&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;This genetic test aims to&amp;nbsp;detect harmful mutations in the UBA1 gene in patients showing symptoms suggestive of or aligning with VEXAS syndrome.&lt;/span&gt;&lt;/p&gt;
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&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;METHOD NAME&lt;br /&gt;&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;p style=&quot;font-weight: 400;&quot;&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Droplet Digital Polymerase Chain Reaction&lt;/span&gt;&lt;/p&gt;
&lt;h3&gt;&amp;nbsp;&lt;/h3&gt;
&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;AVAILABILITY&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;TBC&lt;/span&gt;&lt;/p&gt;
&lt;h3&gt;&amp;nbsp;&lt;/h3&gt;
&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;REPORTING NAME&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;div id=&quot;ReportingName-value&quot;&gt;&lt;span style=&quot;color: #808080;&quot;&gt;UBA1 Mutation, Quant, ddPCR, V&lt;/span&gt;&lt;/div&gt;
&lt;h3&gt;&amp;nbsp;&lt;/h3&gt;
&lt;h3&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;OTHER NAMES&lt;/strong&gt;&lt;/span&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;VEXAS&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;VEXAS syndrome&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;UBA1&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;UBA1 mutation&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;UBA1 syndrome&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Systemic inflammation&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Acquired bone marrow failure&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Macrocytic anemia&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Vacuolated bone marrow cells&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Clonal hematopoiesis&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Periorbital edema&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Sweet&#39;s syndrome&lt;/span&gt;&lt;/p&gt;

&lt;h3 id=&quot;SpecimenType-title&quot;&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;SPECIMEN TYPE&lt;/strong&gt;&amp;nbsp;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Whole Blood&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Bone Marrow Aspirate&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Extracted DNA from blood or bone marrow&lt;/span&gt;&lt;/p&gt;
&lt;h3&gt;&amp;nbsp;&lt;/h3&gt;
&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;SHIPPING INSTRUCTIONS&lt;br /&gt;&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;TBC&lt;/span&gt;&lt;/p&gt;

SS grp 3 digitize glass slide

SS grp 2 digitize glass slide

UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies