{"id":1162,"date":"2018-12-20T15:57:52","date_gmt":"2018-12-20T15:57:52","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/pathology\/?page_id=1162"},"modified":"2018-12-20T15:57:52","modified_gmt":"2018-12-20T15:57:52","slug":"chromosome-analysis-skin","status":"publish","type":"page","link":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/","title":{"rendered":"Chromosome Analysis \u2013\u00a0Skin"},"content":{"rendered":"<div class=\"wpb-content-wrapper\" id=\"wpb-content-root\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]Test Overview<\/p>\n<p><strong>CPT Code(s)<\/strong><\/p>\n<p>88233, 88262, 88263, 88280, 88291<\/p>\n<p><strong>Methodology<\/strong><\/p>\n<p>Culture \/ Microscopy \/ Karyotype<\/p>\n<p><strong>Specimen Requirements<\/strong><\/p>\n<p>Container:\u00a0\u00a0Skin biopsies should\u00a0be placed in sterile leak-proof containers with transport media.<\/p>\n<p>If media is not available, place the specimen in sterile saline (e.g.\u00a0Hanks Balanced Salt Solution).<\/p>\n<p><strong>Do not place in formalin.<\/strong><\/p>\n<p>Optimal Quantity:\u00a01.0 cm<sup>2\u00a0<\/sup>or 2-3 punch biopsies<\/p>\n<p>Storage: Room Temperature<\/p>\n<p>Stability at Room Temperature: 8 hours, then refrigerate<\/p>\n<p>Transportation: Avoid freezing or heating over 35<sup>O<\/sup>C<\/p>\n<p><strong>Turnaround Time<\/strong><\/p>\n<p>Final report in 14-28 days<\/p>\n<p>Test Detail<\/p>\n<p><strong>Clinical Significance<\/strong><\/p>\n<p>A chromosome analysis on skin may be clinically significant to identify constitutional chromosome abnormalities observed in skin fibroblasts but not in peripheral blood lymphocytes (e.g.\u00a0Pallister-Killian syndrome), to evaluate possible tissue-specific variation in patients with chromosomal abnormalities identified in peripheral blood lymphocytes and to confirm suspected\u00a0mosaicismbased on skin pigmentation variation or a previous ambiguous karyotype.<br \/>\nClinical Background<\/p>\n<p>Although\u00a0mosaicism\u00a0for chromosome abnormalities in lymphocyte cultures is common, apparent restriction of\u00a0mosaicism\u00a0to one tissue is unusual. After examination of lymphocyte karyotypes, certain patients warrant cytogenetic evaluation of a second tissue, usually cultured skin fibroblasts.\u00a0Cytogenetic analysis from skin biopsies is indicated when there is a suspicion of\u00a0mosaicism(e.g. in\u00a0Pallister-Killian syndrome), or when the physician deems that skin sampling is preferable for clinical reasons.<\/p>\n<p><strong>Methods<\/strong><\/p>\n<p>Skin tissues are cultured to produce metaphase cells for G-banded chromosome analysis<strong>.\u00a0<\/strong>Long term cultures are harvested at approximately 10-14 days, then G-banded. The fibroblast cells are studied\u00a0at approximately 400 \u2013 500 band level using 20 metaphases with complete analysis of 5 metaphase cells and 2 karyotypes.<\/p>\n<p><strong>Interpretation of Results<\/strong><\/p>\n<p>The morphologic interpretation and correlation of results on all cases is performed by a board-certified doctoral level scientist (laboratory director).<strong>\u00a0<\/strong>The final report identifies the chromosomal sex and modal chromosome number.\u00a0\u00a0If abnormalities are present, they are explained in a paragraph which helps to clarify and correlate chromosomal findings with phenotype. Genetic counseling is recommended when chromosome aberrations, mosaic conditions, or unusual results are found, along with recommendation for further testing (e.g. microarray).\u00a0\u00a0References are included in the report to help the referring physician with interpretation, which include books or journals that contain appropriate information.[\/vc_column_text][\/vc_column][vc_column width=&#8221;1\/3&#8243;][\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]Test Overview CPT Code(s) 88233, 88262, 88263, 88280, 88291 Methodology Culture \/ Microscopy \/ Karyotype Specimen Requirements Container:\u00a0\u00a0Skin biopsies should\u00a0be placed in sterile leak-proof containers with transport media. If media is not available, place the specimen in sterile saline (e.g.\u00a0Hanks Balanced Salt Solution). Do not place in formalin. Optimal Quantity:\u00a01.0 cm2\u00a0or 2-3 punch biopsies [&hellip;]<\/p>\n","protected":false},"author":161,"featured_media":0,"parent":615,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-templates\/child-page.php","meta":{"footnotes":""},"class_list":["post-1162","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Chromosome Analysis \u2013\u00a0Skin - Department of Pathology and Laboratory Medicine<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Chromosome Analysis \u2013\u00a0Skin - Department of Pathology and Laboratory Medicine\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]Test Overview CPT Code(s) 88233, 88262, 88263, 88280, 88291 Methodology Culture \/ Microscopy \/ Karyotype Specimen Requirements Container:\u00a0\u00a0Skin biopsies should\u00a0be placed in sterile leak-proof containers with transport media. If media is not available, place the specimen in sterile saline (e.g.\u00a0Hanks Balanced Salt Solution). Do not place in formalin. Optimal Quantity:\u00a01.0 cm2\u00a0or 2-3 punch biopsies [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/\" \/>\n<meta property=\"og:site_name\" content=\"Department of Pathology and Laboratory Medicine\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/reference-labs\\\/clinical-molecular-cytogenetics\\\/chromosome-analysis-skin\\\/\",\"url\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/reference-labs\\\/clinical-molecular-cytogenetics\\\/chromosome-analysis-skin\\\/\",\"name\":\"Chromosome Analysis \u2013\u00a0Skin - Department of Pathology and Laboratory Medicine\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/#website\"},\"datePublished\":\"2018-12-20T15:57:52+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/reference-labs\\\/clinical-molecular-cytogenetics\\\/chromosome-analysis-skin\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/reference-labs\\\/clinical-molecular-cytogenetics\\\/chromosome-analysis-skin\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/reference-labs\\\/clinical-molecular-cytogenetics\\\/chromosome-analysis-skin\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Laboratories of Department of Pathology and Laboratory Medicine\",\"item\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/reference-labs\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Cytogenetics Laboratory\",\"item\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/reference-labs\\\/clinical-molecular-cytogenetics\\\/\"},{\"@type\":\"ListItem\",\"position\":4,\"name\":\"Chromosome Analysis \u2013\u00a0Skin\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/#website\",\"url\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/\",\"name\":\"Department of Pathology and Laboratory Medicine\",\"description\":\"Department of Pathology and Laboratory Medicine\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Chromosome Analysis \u2013\u00a0Skin - Department of Pathology and Laboratory Medicine","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/","og_locale":"en_US","og_type":"article","og_title":"Chromosome Analysis \u2013\u00a0Skin - Department of Pathology and Laboratory Medicine","og_description":"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]Test Overview CPT Code(s) 88233, 88262, 88263, 88280, 88291 Methodology Culture \/ Microscopy \/ Karyotype Specimen Requirements Container:\u00a0\u00a0Skin biopsies should\u00a0be placed in sterile leak-proof containers with transport media. If media is not available, place the specimen in sterile saline (e.g.\u00a0Hanks Balanced Salt Solution). Do not place in formalin. Optimal Quantity:\u00a01.0 cm2\u00a0or 2-3 punch biopsies [&hellip;]","og_url":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/","og_site_name":"Department of Pathology and Laboratory Medicine","twitter_card":"summary_large_image","twitter_misc":{"Est. reading time":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/","url":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/","name":"Chromosome Analysis \u2013\u00a0Skin - Department of Pathology and Laboratory Medicine","isPartOf":{"@id":"https:\/\/lsom.uthscsa.edu\/pathology\/#website"},"datePublished":"2018-12-20T15:57:52+00:00","breadcrumb":{"@id":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-skin\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/lsom.uthscsa.edu\/pathology\/"},{"@type":"ListItem","position":2,"name":"Laboratories of Department of Pathology and Laboratory Medicine","item":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/"},{"@type":"ListItem","position":3,"name":"Cytogenetics Laboratory","item":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/"},{"@type":"ListItem","position":4,"name":"Chromosome Analysis \u2013\u00a0Skin"}]},{"@type":"WebSite","@id":"https:\/\/lsom.uthscsa.edu\/pathology\/#website","url":"https:\/\/lsom.uthscsa.edu\/pathology\/","name":"Department of Pathology and Laboratory Medicine","description":"Department of Pathology and Laboratory Medicine","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/lsom.uthscsa.edu\/pathology\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"}]}},"_links":{"self":[{"href":"https:\/\/lsom.uthscsa.edu\/pathology\/wp-json\/wp\/v2\/pages\/1162","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lsom.uthscsa.edu\/pathology\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/lsom.uthscsa.edu\/pathology\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/lsom.uthscsa.edu\/pathology\/wp-json\/wp\/v2\/users\/161"}],"replies":[{"embeddable":true,"href":"https:\/\/lsom.uthscsa.edu\/pathology\/wp-json\/wp\/v2\/comments?post=1162"}],"version-history":[{"count":0,"href":"https:\/\/lsom.uthscsa.edu\/pathology\/wp-json\/wp\/v2\/pages\/1162\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/lsom.uthscsa.edu\/pathology\/wp-json\/wp\/v2\/pages\/615"}],"wp:attachment":[{"href":"https:\/\/lsom.uthscsa.edu\/pathology\/wp-json\/wp\/v2\/media?parent=1162"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}