&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;The ESR1 gene encodes estrogen receptors, vital for cell growth regulation. ER-positive tumors are treated with endocrine therapies, but ESR1 mutations, occurring after therapy, induce resistance. This test detects such mutations in the ligand-binding domain, guiding treatment decisions. Elacestrant, a SERD, may benefit patients with ESR1-mutated breast cancer resistant to prior endocrine therapy.&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&lt;hr /&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&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;Sequence Capture and Targeted Next-Generation Sequencing (NGS)&lt;/span&gt;&lt;/p&gt;
&lt;p style=&quot;font-weight: 400;&quot;&gt;&amp;nbsp;&lt;/p&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;p&gt;&amp;nbsp;&lt;/p&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;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;ESR1 Mutations Analysis, Tumor&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;ALIASES&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Endocrine therapy&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;ER&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;ER positive&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;ESR1&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Estrogen receptor 1&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Metastatic breast cancer&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Next Gen Sequencing Test&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;NGS&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;Varies&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&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;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
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&lt;div class=&quot;markdown prose w-full break-words dark:prose-invert light&quot;&gt;
&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;SPECIMEN REQUIRED&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;&lt;strong&gt;This assay requires at least 20% tumor nuclei.&lt;/strong&gt;&lt;/span&gt;&lt;/p&gt;
&lt;p style=&quot;font-weight: 400;&quot;&gt;&lt;span style=&quot;color: #808080;&quot;&gt;NOTE: Submit tissue from either local recurrence or metastatic disease collected after endocrine therapy has been administered (see Clinical Information for more details).&lt;/span&gt;&lt;/p&gt;
&lt;ul&gt;
&lt;li style=&quot;font-weight: 400;&quot;&gt;&lt;span style=&quot;color: #808080;&quot;&gt;-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue 216 mm(2)&lt;/span&gt;&lt;/li&gt;
&lt;li style=&quot;font-weight: 400;&quot;&gt;&lt;span style=&quot;color: #808080;&quot;&gt;-Minimum amount of tumor area: tissue 36 mm(2)&lt;/span&gt;&lt;/li&gt;
&lt;li style=&quot;font-weight: 400;&quot;&gt;&lt;span style=&quot;color: #808080;&quot;&gt;-These amounts are cumulative over up to 10 unstained slides and must have adequate percent tumor nuclei.&lt;/span&gt;&lt;/li&gt;
&lt;li style=&quot;font-weight: 400;&quot;&gt;&lt;span style=&quot;color: #808080;&quot;&gt;-Tissue fixation: 10% neutral buffered formalin, not decalcified&lt;/span&gt;&lt;/li&gt;
&lt;li style=&quot;font-weight: 400;&quot;&gt;&lt;span style=&quot;color: #808080;&quot;&gt;-For specimen preparation guidance, see&amp;nbsp;&lt;a href=&quot;https://www.mayocliniclabs.com/~/media/it-mmfiles/special-instructions/Tissue_Requirements_for_Solid_Tumor_Next_Generation_Sequencing.pdf&quot; data-di-id=&quot;di-id-ccfdbc0f-55c25bd&quot;&gt;Tissue Requirement for Solid Tumor Next-Generation Sequencing&lt;/a&gt;. In this document, the sizes are given as 4 mm x 4 mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3 mm x 1 mm x 10 slides: approximate/equivalent to 36 mm(2).&lt;/span&gt;&lt;/li&gt;
&lt;/ul&gt;
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Lysosomal and Peroxisomal Disorders Screen, Blood Spot copy

Lysosomal and Peroxisomal Disorders Screen, Blood Spot

ESR1 Mutation Analysis, Next-Generation Sequencing, Tumor