&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;font-weight: 400; color: #808080;&quot;&gt;The Acid Sphingomyelinase test on leukocytes is utilized to explore potential diagnoses for Niemann-Pick disease types A and B. It is not recommended for carrier detection due to the variability of enzymatic activities observed in carriers and noncarriers. This test offers diagnostic assessment for individuals with reduced acid sphingomyelinase activity on newborn screening or clinical signs and symptoms suggestive of Niemann-Pick type A or B.&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;The method employed is Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS). Specimens required are Whole Blood ACD, preferably collected in a yellow top (ACD solution B) tube with a volume of 6 mL. Collection should occur from Monday through Thursday, excluding the day before a holiday, and specimens should be refrigerated and arrive within 6 days of collection for optimal isolation of leukocytes. Gross hemolysis is a criterion for rejection, and specimen stability varies based on storage conditions.&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;WHAT IS IT USED FOR?&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Exploration of potential diagnoses for Niemann-Pick disease types A and B.&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;This test is discouraged for carrier detection due to the broad spectrum of enzymatic activities noted in carriers and noncarriers.&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;GENETICS TEST INFORMATION&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;This test offers diagnostic assessment for individuals exhibiting reduced acid sphingomyelinase activity on newborn screening or displaying clinical signs and symptoms suggestive of Niemann-Pick type A or B.&lt;/span&gt;&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&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)&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;AVAILABILITY&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; 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;h4&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Acid Sphingomyelinase, Leukocytes&lt;/span&gt;&lt;/h4&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;font-weight: 400; color: #808080;&quot;&gt;Acid Sphingomyelinase Deficiency&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;ASM Deficiency&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Niemann-Pick Disease&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Niemann-Pick type A&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Niemann-Pick type B&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;NPD&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Sphingomyelinase Deficiency&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;NPA&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;NPB&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 TYPE&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;h4&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Whole Blood ACD&lt;/span&gt;&lt;/h4&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;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;For the best isolation of leukocytes, it is advised that the specimen be refrigerated and arrive within 6 days of collection to ensure stabilization. The collection should only occur from Monday through Thursday, excluding the day before a holiday. Additionally, specimens should be collected and packaged as close to the shipping time as feasible.&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;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Container/Tube:&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Preferred: Yellow top (ACD solution B)&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Specimen Volume: 6 mL&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Collection Instructions: Send specimen in original tube. Do not aliquot.&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;&lt;/span&gt;&lt;/h3&gt;
&lt;p&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;2 mL&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;REJECT DUE TO&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;ul&gt;
&lt;li style=&quot;font-weight: 400;&quot; aria-level=&quot;1&quot;&gt;&lt;span style=&quot;font-weight: 400; color: #808080;&quot;&gt;Gross hemolysis (Reject)&lt;/span&gt;&lt;/li&gt;
&lt;/ul&gt;
&lt;p&gt;&amp;nbsp;&lt;/p&gt;
&lt;h3&gt;&lt;span style=&quot;color: #33cccc;&quot;&gt;&lt;strong&gt;SPECIMEN STABILITY INFORMATION&lt;/strong&gt;&lt;/span&gt;&lt;/h3&gt;
&lt;ul&gt;
&lt;li style=&quot;font-weight: 400;&quot; aria-level=&quot;1&quot;&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;span style=&quot;font-weight: 400;&quot;&gt;Whole Blood ACD &lt;/span&gt;&lt;span style=&quot;font-weight: 400;&quot;&gt;&amp;ndash; &lt;/span&gt;&lt;span style=&quot;font-weight: 400;&quot;&gt;Refrigerated (preferred)&lt;/span&gt;&lt;span style=&quot;font-weight: 400;&quot;&gt; &amp;ndash; TBC days&lt;/span&gt;&lt;/span&gt;&lt;/li&gt;
&lt;li&gt;&lt;span style=&quot;color: #808080;&quot;&gt;&lt;span style=&quot;font-weight: 400;&quot;&gt;Whole Blood ACD &lt;/span&gt;&lt;span style=&quot;font-weight: 400;&quot;&gt;&amp;ndash; &lt;/span&gt;&lt;span style=&quot;font-weight: 400;&quot;&gt;Ambient &lt;/span&gt;&lt;span style=&quot;font-weight: 400;&quot;&gt;&amp;ndash; TBC days&lt;/span&gt;&lt;/span&gt;&lt;/li&gt;
&lt;/ul&gt;