{"id":57,"date":"2015-09-02T18:15:47","date_gmt":"2015-09-02T22:15:47","guid":{"rendered":"https:\/\/www.bu.edu\/sicklecell\/?page_id=57"},"modified":"2022-09-06T09:29:04","modified_gmt":"2022-09-06T13:29:04","slug":"diagnostics","status":"publish","type":"page","link":"https:\/\/www.bu.edu\/sicklecell\/diagnostics\/","title":{"rendered":"Hemoglobin Diagnostic Reference Laboratory"},"content":{"rendered":"<p><strong>Director:<\/strong> Eric Burks, MD<br \/>\n<strong>Associate Director:\u00a0\u00a0\u00a0<\/strong>Hong-yuan Luo, MB, PhD<br \/>\n<img loading=\"lazy\" src=\"\/sicklecell\/files\/2009\/07\/chui3-393x300.jpg\" alt=\"\" width=\"334\" height=\"255\" class=\" wp-image-85 alignright\" srcset=\"https:\/\/www.bu.edu\/sicklecell\/files\/2009\/07\/chui3-393x300.jpg 393w, https:\/\/www.bu.edu\/sicklecell\/files\/2009\/07\/chui3.jpg 691w\" sizes=\"(max-width: 334px) 100vw, 334px\" \/><strong>Laboratory Manager:<\/strong> Thomas Maher, MS<\/p>\n<p style=\"text-align: left;\">Hemoglobin Diagnostic Reference Laboratory<br \/>\n670 Albany Street, 3rd Floor Room 328<br \/>\nBoston MA 02118<\/p>\n<p style=\"text-align: left;\">Phone 617-414-5312<br \/>\nFax:\u00a0\u00a0\u00a0\u00a0 617-414-5315<br \/>\nEmail:\u00a0 <a href=\"mailto:hemoglobin@bmc.org\">hemoglobin@bmc.org<\/a><\/p>\n<p><a href=\"\/sicklecell\/files\/2022\/09\/HDRLReqform20220902.pdf\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Billing Diagnostic Repertoire and Requisition Form<\/strong><\/a><\/p>\n<p><a href=\"\/sicklecell\/files\/2009\/07\/globingenemutationsdiagnosed.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Globin Gene Mutations Diagnosed<\/a><\/p>\n<table cellspacing=\"0\" border=\"0\">\n<tbody>\n<tr>\n<td valign=\"middle\" align=\"center\">\n<p><figure id=\"attachment316\" aria-describedby=\"caption-attachment316\" style=\"width: 289px\" class=\"wp-caption alignnone\"><a href=\"\/sicklecell\/files\/2009\/07\/chui1a.jpg\" target=\"_blank\" rel=\"noopener noreferrer\"><img loading=\"lazy\" class=\"size-medium wp-image-316 \" src=\"\/sicklecell\/files\/2009\/07\/chui1a-388x300.jpg\" alt=\"caption\" width=\"279\" height=\"216\" srcset=\"https:\/\/www.bu.edu\/sicklecell\/files\/2009\/07\/chui1a-388x300.jpg 388w, https:\/\/www.bu.edu\/sicklecell\/files\/2009\/07\/chui1a.jpg 671w\" sizes=\"(max-width: 279px) 100vw, 279px\" \/><\/a><figcaption id=\"caption-attachment316\" class=\"wp-caption-text\">Blood smear of \u03b2-thalassemia intermedia<\/figcaption><\/figure><\/td>\n<td valign=\"middle\" align=\"center\">\n<p><figure id=\"attachment317\" aria-describedby=\"caption-attachment317\" style=\"width: 315px\" class=\"wp-caption alignnone\"><a href=\"\/sicklecell\/files\/2009\/07\/chui2a.jpg\" target=\"_blank\" rel=\"noopener noreferrer\"><img loading=\"lazy\" class=\"size-medium wp-image-317 \" src=\"\/sicklecell\/files\/2009\/07\/chui2a-424x300.jpg\" alt=\"HPLC chromatogram of Hb S-South End and Hb S\" width=\"305\" height=\"216\" srcset=\"https:\/\/www.bu.edu\/sicklecell\/files\/2009\/07\/chui2a-424x300.jpg 424w, https:\/\/www.bu.edu\/sicklecell\/files\/2009\/07\/chui2a.jpg 653w\" sizes=\"(max-width: 305px) 100vw, 305px\" \/><\/a><figcaption id=\"caption-attachment317\" class=\"wp-caption-text\">HPLC chromatogram of Hb S-South End and Hb S<\/figcaption><\/figure><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<div><strong><span style=\"font-size: medium; color: #000080;\"><a href=\"\/sicklecell\/files\/2009\/07\/chui2.jpg\" target=\"_blank\" rel=\"noopener noreferrer\"><\/a><\/span><\/strong><\/div>\n<div><strong><\/strong><strong><span style=\"font-size: medium; color: #000080;\"><a href=\"\/sicklecell\/files\/2009\/07\/chui2.jpg\"><\/a>\u00a0\u00a0<\/span><\/strong><span style=\"font-size: medium; color: #cc0000;\"><strong><br \/>\nFacts<\/strong><\/span><\/div>\n<ul>\n<li>The <span style=\"font-family: &quot;Arial Narrow&amp;quot;\">\u03b1-<\/span>globin gene cluster is on the short arm of chromosome 16.<a href=\"\/sicklecell\/files\/2009\/07\/lab-work.jpg\" target=\"_blank\" rel=\"noopener noreferrer\"><img loading=\"lazy\" class=\"alignright size-medium wp-image-144\" src=\"\/sicklecell\/files\/2009\/07\/lab-work-417x300.jpg\" alt=\"lab-work\" width=\"270\" height=\"195\" srcset=\"https:\/\/www.bu.edu\/sicklecell\/files\/2009\/07\/lab-work-417x300.jpg 417w, https:\/\/www.bu.edu\/sicklecell\/files\/2009\/07\/lab-work.jpg 450w\" sizes=\"(max-width: 270px) 100vw, 270px\" \/><\/a><\/li>\n<li>The<span style=\"font-family: Arial Narrow;\"> <\/span><span style=\"font-family: &quot;Arial Narrow&amp;quot;\">\u03b2-<\/span>globin gene cluster is on the short arm of chromosome 11.<\/li>\n<li>Globin gene mutations are the most common hereditary monogenic disease in man.<\/li>\n<li>There are now over 1,200 known natural globin gene mutations.<\/li>\n<li>These are tabulated in <a title=\"Globin Gene Server\" href=\"http:\/\/globin.cse.psu.edu\/\" target=\"_blank\" rel=\"noopener noreferrer\">Globin Gene Server<\/a><\/li>\n<li>These mutations are found in ALL populations, but more prevalent in people from Africa, Mediterranean region, Eastern Europe, Middle East, Indian subcontinent, and southeast Asia, the so-called &#8220;malaria belt.&#8221;<\/li>\n<li>In some populations, carriers of sickle cell hemoglobin or thalassemia can range from 10% to 40%.<\/li>\n<li>With increasing racial and ethnic diversity in our country, hemoglobin disorders are now encountered more frequently than ever.<\/li>\n<li>With an increasing ethnic mix of populations, unusual combinations of globin gene mutations, each of which alone might be innocuous, could result in severe clinical syndromes.<\/li>\n<li>For the best possible patient care and counseling, accurate genetic diagnosis is required.<\/li>\n<\/ul>\n<p><strong><\/strong><\/p>\n<p><span style=\"font-size: medium; color: #cc0000;\"><strong>Analyses<\/strong><\/span><\/p>\n<p>Our Laboratory specializes in hemoglobin and DNA-based mutational analyses to diagnose:<\/p>\n<ul>\n<li><strong>Clinically important variant hemoglobins:<\/strong><\/li>\n<\/ul>\n<p style=\"padding-left: 60px; line-height: 150%;\"><strong><span style=\"color: #cc0000;\">Sickle cell anemia<\/span><\/strong>, e.g. Hb S, C, D, O, Quebec-Chori, S-South End.<br \/>\n<strong><span style=\"color: #cc0000;\">Hemolytic anemia<\/span><\/strong> caused by unstable variant hemoglobins.<br \/>\n<strong><span style=\"color: #cc0000;\">Thalassemia<\/span><\/strong>, e.g. Hb E, Malay.<br \/>\n<strong><span style=\"color: #cc0000;\">Erythrocytosis<\/span><\/strong> caused by high oxygen affinity variant hemoglobins.<br \/>\n<strong><span style=\"color: #cc0000;\">Low blood oxygen saturation<\/span><\/strong> caused by low oxygen affinity variant hemoglobins.<br \/>\n<strong><span style=\"color: #cc0000;\">Cyanosis<\/span><\/strong> caused by hereditary methemoglobinemias.<\/p>\n<ul>\n<li><strong>Thalassemia mutations <\/strong>that markedly decrease or abolish globin chain production:<\/li>\n<\/ul>\n<p style=\"padding-left: 60px; line-height: 150%;\"><strong><span style=\"font-size: 11pt; color: #ff0000; font-family: Symbol;\">b<\/span><span style=\"font-size: 11pt; color: #ff0000; font-family: &quot;Times New Roman&amp;quot;\">&#8211;<\/span><\/strong><span style=\"color: #cc0000;\"><strong>Thalassemias<\/strong><\/span>, both common and uncommon point mutations, and deletions.<br \/>\n<strong><span style=\"font-size: 11pt; color: #ff0000; font-family: Symbol;\">a<\/span><span style=\"color: #cc0000;\"><span style=\"font-size: 11pt; font-family: Times New Roman;\">&#8211;<\/span><\/span><\/strong><span style=\"color: #cc0000;\"><strong>Thalassemias<\/strong><\/span>, both deletions and point mutations.<\/p>\n<ul>\n<li><strong>Hereditary persistence of fetal hemoglobin<\/strong> (<span style=\"color: #cc0000;\">HPFH<\/span>)<\/li>\n<\/ul>\n<p><strong><\/strong><\/p>\n<p><span style=\"font-size: medium; color: #cc0000;\"><strong>Laboratory Correlation and Consultation<\/strong><\/span><\/p>\n<p>We provide clinical \/ genetic \/ laboratory correlation and consultation.<\/p>\n<p><span style=\"color: #cc0000;\"><strong>Blood Sample Required<\/strong><\/span><\/p>\n<ul>\n<li>2 tubes of EDTA-anticoagulated blood (lavender top tube), less in children.<\/li>\n<li>Please email <a href=\"mailto:hemoglobin@bmc.org\">hemoglobin@bmc.org<\/a>\u00a0for additional information or clarification.<\/li>\n<\/ul>\n<p><span style=\"font-size: medium; color: #000080;\"><span style=\"color: #cc0000;\"><strong>Laboratory Certification<\/strong><\/span><\/span><\/p>\n<ul>\n<li>Our laboratory is CAP certified (The College of American Pathologists)<\/li>\n<li>CLIA accredited (The Clinical Laboratory Improvement Amendments Center for Medicare and Medicaid Services<\/li>\n<li>Is an integral part of:<br \/>\n<a href=\"https:\/\/www.bu.edu\/sicklecell\/\" target=\"_blank\" rel=\"noopener noreferrer\">The Center of Excellence in Sickle Cell Disease<\/a><\/li>\n<\/ul>\n<p><span style=\"font-size: medium; color: #000080;\"><span style=\"color: #cc0000;\"><strong>CPT Codes<\/strong><\/span><\/span><\/p>\n<ul>\n<li>83020 Hemoglobin fractionation and quantitation; electrophoresis<\/li>\n<li>83021\u00a0 Hemoglobin fractionation and quantitation; chromatography<\/li>\n<li>81257\u00a0 HBA1\/HBA2 Common deletions or variants<\/li>\n<li>81269\u00a0 HBA1\/HBA2 Gene Analysis DUP\/DEL Variants<\/li>\n<li>81259\u00a0 HBA1\/HBA2 Gene Analysis Full Gene Sequence<\/li>\n<li>81363\u00a0 HBB Duplication\/Deletion Variants<\/li>\n<li>81364\u00a0 HBB Full Gene Sequence<\/li>\n<li>81479\u00a0 Unlisted Molecular Procedures<\/li>\n<li>G0452 Molecular Diagnostic Interpretation &amp; Report<\/li>\n<\/ul>\n<p><a href=\"\/sicklecell\/files\/2009\/07\/chui4.jpg\" target=\"_blank\" rel=\"noopener noreferrer\"><img loading=\"lazy\" class=\"size-medium wp-image-86 aligncenter\" src=\"\/sicklecell\/files\/2009\/07\/chui4-405x300.jpg\" alt=\"Nucleotide sequence of Hb Titusville\" width=\"225\" height=\"189\" \/><\/a><\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Director: Eric Burks, MD Associate Director:\u00a0\u00a0\u00a0Hong-yuan Luo, MB, PhD Laboratory Manager: Thomas Maher, MS Hemoglobin Diagnostic Reference Laboratory 670 Albany Street, 3rd Floor Room 328 Boston MA 02118 Phone 617-414-5312 Fax:\u00a0\u00a0\u00a0\u00a0 617-414-5315 Email:\u00a0 hemoglobin@bmc.org Billing Diagnostic Repertoire and Requisition Form Globin Gene Mutations Diagnosed \u00a0\u00a0 Facts The \u03b1-globin gene cluster is on the short arm [&hellip;]<\/p>\n","protected":false},"author":5793,"featured_media":0,"parent":0,"menu_order":7,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/www.bu.edu\/sicklecell\/wp-json\/wp\/v2\/pages\/57"}],"collection":[{"href":"https:\/\/www.bu.edu\/sicklecell\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.bu.edu\/sicklecell\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.bu.edu\/sicklecell\/wp-json\/wp\/v2\/users\/5793"}],"replies":[{"embeddable":true,"href":"https:\/\/www.bu.edu\/sicklecell\/wp-json\/wp\/v2\/comments?post=57"}],"version-history":[{"count":50,"href":"https:\/\/www.bu.edu\/sicklecell\/wp-json\/wp\/v2\/pages\/57\/revisions"}],"predecessor-version":[{"id":1091,"href":"https:\/\/www.bu.edu\/sicklecell\/wp-json\/wp\/v2\/pages\/57\/revisions\/1091"}],"wp:attachment":[{"href":"https:\/\/www.bu.edu\/sicklecell\/wp-json\/wp\/v2\/media?parent=57"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}