&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;This test is valuable for diagnosing biotinidase deficiency and conducting further examinations for specific organic acidurias. It primarily involves enzymatic testing and is typically performed following an abnormal newborn screening.&lt;/span&gt;&lt;/p&gt;
&lt;hr /&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&lt;h2&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;WHAT IS IT USED FOR?&lt;/strong&gt;&lt;/span&gt;&lt;/h2&gt;
&lt;ul&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Assessing individuals who exhibit signs of Birt-Hogg-Dube (BHD) syndrome in their personal or familial medical records.&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Confirming the presence of BHD syndrome to enable tailored cancer monitoring according to its related vulnerabilities.&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Detecting mutations in genes linked to heightened BHD syndrome susceptibility, enabling proactive testing for family members at risk.&lt;/span&gt;&lt;/li&gt;
&lt;/ul&gt;
&lt;h2&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;METHOD NAME&lt;br /&gt;&lt;/strong&gt;&lt;/span&gt;&lt;/h2&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing&lt;/span&gt;&lt;/p&gt;
&lt;h2&gt;&lt;strong style=&quot;color: #33cccc;&quot;&gt;AVAILABILITY&lt;/strong&gt;&lt;/h2&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;TBC&lt;/span&gt;&lt;/p&gt;
&lt;h2&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;REPORTING NAME&lt;/strong&gt;&lt;/span&gt;&lt;/h2&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;FLCN Full Gene Analysis&lt;/span&gt;&lt;/p&gt;
&lt;h2&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;OTHER NAME&lt;/span&gt;&lt;/strong&gt;&lt;br /&gt;&lt;/span&gt;&lt;/h2&gt;
&lt;ul&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Birt&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Birt-Hogg&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Birt-Hogg-Dube&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;BHD&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;BHD syndrome&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;BHDS&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;NextGen Sequencing Test&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Single gene&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Fibrofolliculoma&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Trichodiscoma&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Angiofibroma&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Pneumothorax&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Perifollicular fibromas&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;renal cancer&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;hereditary cancer&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;folliculin&lt;/span&gt;&lt;/li&gt;
&lt;/ul&gt;

&lt;h2 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;/h2&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Whole blood&lt;/span&gt;&lt;/p&gt;
&lt;h2&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;SHIPPING INSTRUCTIONS&lt;br /&gt;&lt;/strong&gt;&lt;/span&gt;&lt;/h2&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;TBC&lt;/span&gt;&lt;/p&gt;
&lt;div class=&quot;flex-1 overflow-hidden&quot;&gt;
&lt;div class=&quot;react-scroll-to-bottom--css-ffwkx-79elbk h-full&quot;&gt;
&lt;div class=&quot;react-scroll-to-bottom--css-ffwkx-1n7m0yu&quot;&gt;
&lt;div class=&quot;flex flex-col text-sm pb-9&quot;&gt;
&lt;div class=&quot;w-full text-token-text-primary&quot; dir=&quot;auto&quot; data-testid=&quot;conversation-turn-7&quot;&gt;
&lt;div class=&quot;px-4 py-2 justify-center text-base md:gap-6 m-auto&quot;&gt;
&lt;div class=&quot;flex flex-1 text-base mx-auto gap-3 juice:gap-4 juice:md:gap-6 md:px-5 lg:px-1 xl:px-5 md:max-w-3xl lg:max-w-[40rem] xl:max-w-[48rem] group final-completion&quot;&gt;
&lt;div class=&quot;relative flex w-full flex-col agent-turn&quot;&gt;
&lt;div class=&quot;flex-col gap-1 md:gap-3&quot;&gt;
&lt;div class=&quot;flex flex-grow flex-col max-w-full&quot;&gt;
&lt;div class=&quot;min-h-[20px] text-message flex flex-col items-start gap-3 whitespace-pre-wrap break-words [.text-message+&amp;amp;]:mt-5 overflow-x-auto&quot; dir=&quot;auto&quot; data-message-author-role=&quot;assistant&quot; data-message-id=&quot;51364005-ca87-4f44-9ae9-16e243c2b60c&quot;&gt;
&lt;div class=&quot;markdown prose w-full break-words dark:prose-invert light&quot;&gt;
&lt;h2&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;SPECIMEN COLLECTION&lt;/strong&gt;&lt;/span&gt;&lt;/h2&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Patient Preparation:&lt;/strong&gt; Undergoing a bone marrow transplant from a donor other than oneself will disrupt the testing process.&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Collection Container/Tube:&amp;nbsp;&lt;/strong&gt;Lavender top (EDTA) or yellow top (ACD)&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Specimen Volume:&lt;/strong&gt; 3 mL&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Collection Instructions:&amp;nbsp;&lt;/strong&gt;&lt;/span&gt;&lt;/p&gt;
&lt;ul&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Rotate the tube multiple times to ensure thorough mixing of the blood.&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Submit the entire blood sample in its original tube. Avoid dividing it into smaller portions.&lt;/span&gt;&lt;/li&gt;
&lt;/ul&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;
&lt;/div&gt;

Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies