&lt;h2&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Overview&lt;/strong&gt;&lt;/span&gt;&lt;/h2&gt;
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&lt;div class=&quot;markdown prose w-full break-words dark:prose-invert light&quot;&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;the &quot;Peroxisomal Disorder Gene Panel&quot; is a specialized genetic test designed to identify mutations in genes related to peroxisomal disorders, crucial for diagnosing and managing these rare inherited conditions affecting peroxisome function.&lt;/span&gt;&lt;/p&gt;
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&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&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;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;1. Reviewing abnormal biochemical findings, typically involving a very long-chain fatty acid test indicative of a peroxisomal disorder.&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;2. Establishing a genetic diagnosis for individuals affected by peroxisomal disorders.&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;3. Detecting mutations in genes linked to peroxisomal disorders, enabling predictive testing for family members at risk.&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;METHOD NAME&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 followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.&lt;/span&gt;&lt;/p&gt;
&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;&lt;br /&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;Peroxisomal Disorder Gene Panel&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;ul&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Acatalasemia&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Acyl-CoA oxidase deficiency&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Adrenoleukodystrophy-like/related&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Alpha-methylacyl-CoA racemase deficiency; bile acid synthesis defect, congenital&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Congenital bile acid synthesis defect-5&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;D-bifunctional enzyme deficiency; Perrault syndrome&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Glutaric aciduria III&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Leukoencephalopathy with dystonia and motor neuropathy&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Mulibrey nanism&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Next Gen Sequencing Test&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;PDP peroxisome biogenesis disorder&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Refsum disease&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Rhizomelic chondrodysplasia punctata, type 2 (RCDP)&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Rhizomelic chondrodysplasia punctate, type 1 (RCDP)&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Rhizomelic chondrodysplasia punctate, type 3 (RCDP)&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;X linked adrenoleukodystrophy&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Zellweger&lt;/span&gt;&lt;/li&gt;
&lt;/ul&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;&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;
&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;SPECIMEN REQUIRED&lt;/strong&gt;&amp;nbsp;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Patient Preparation:&lt;/strong&gt;&lt;/span&gt; A previous bone marrow transplant from an allogenic donor will interfere with testing. Instructions for testing patients who have received a bone marrow transplant.&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;strong&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Submit only 1 of the following specimens:&lt;/span&gt;&lt;/strong&gt;&lt;/p&gt;
&lt;p&gt;&lt;br /&gt;&lt;strong&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Specimen Type: Whole blood&lt;/span&gt;&lt;/strong&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Container/Tube:&lt;/strong&gt; Lavender top (EDTA) or yellow top (ACD)&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Specimen Volume:&lt;/strong&gt; 3 mL&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Collection Instructions:&lt;/strong&gt;&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;1. Invert several times to mix blood.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;2. Send the whole blood specimen in the original tube. Do not aliquot&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Specimen Stability Information: Ambient (preferred)/Refrigerated&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&lt;p&gt;&lt;strong&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Specimen Type: Skin biopsy&lt;/span&gt;&lt;/strong&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Supplies:&lt;/strong&gt; Fibroblast Biopsy Transport Media&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Specimen Volume:&lt;/strong&gt; 4-mm punch&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Specimen Stability Information:&lt;/strong&gt; Refrigerated (preferred)/Ambient&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Additional Information:&lt;/strong&gt;&lt;/span&gt; A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&lt;p&gt;&lt;strong&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Specimen Type: Cultured fibroblast&lt;/span&gt;&lt;/strong&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Container/Tube:&lt;/strong&gt; T-25 flask&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Specimen Volume:&lt;/strong&gt; 2 Flasks&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Collection Instructions:&lt;/strong&gt;&lt;/span&gt; Submit confluently cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Specimen Stability Information: Ambient (preferred)/Refrigerated (&amp;lt;24 hours)&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Additional Information:&lt;/strong&gt;&lt;/span&gt; A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&lt;p&gt;&lt;strong&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Specimen Type: Blood spot&lt;/span&gt;&lt;/strong&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Supplies:&lt;/strong&gt; Card-Blood Spot Collection (Filter Paper)&lt;/span&gt;&lt;br /&gt;&lt;strong&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Container/Tube:&lt;/span&gt;&lt;/strong&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Preferred:&lt;/strong&gt; Collection card (Whatman Protein Saver 903 Paper)&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Acceptable:&lt;/strong&gt; PerkinElmer 226 (formerly Ahlstrom 226) filter paper or blood spot collection card&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Specimen Volume:&lt;/strong&gt; 5 Blood spots&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Collection Instructions:&lt;/strong&gt;&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;3. Do not expose the specimen to heat or direct sunlight.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;4. Do not stack wet specimens.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;5. Keep the specimen dry&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Specimen Stability Information:&lt;/strong&gt; Ambient (preferred)/Refrigerated&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Additional Information:&lt;/strong&gt;&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;1. Due to the lower concentration of DNA yielded from the blood spot, it is possible that additional specimens may be required to complete testing.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;2. For collection instructions, see Blood Spot Collection Instructions&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;3. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;4. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&lt;p&gt;&lt;strong&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Specimen Type: Saliva&lt;/span&gt;&lt;/strong&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Patient Preparation:&lt;/strong&gt; The patient should not eat, drink, smoke, or chew gum 30 minutes before collection.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Supplies:&lt;/strong&gt; Saliva Swab Collection Kit (T786)&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;strong&gt;Specimen Volume:&lt;/strong&gt; 1 swab&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Collection Instructions:&lt;/strong&gt; &lt;/span&gt;Collect and send specimen per kit instructions.&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;Specimen Stability Information: Ambient 30 days&lt;/span&gt;&lt;br /&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;Additional Information:&lt;/strong&gt; &lt;/span&gt;Due to the lower concentration of DNA yielded from saliva, it is possible that additional specimen may be required to complete testing.&lt;/span&gt;&lt;/p&gt;

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