{"id":1165,"date":"2018-12-20T16:01:40","date_gmt":"2018-12-20T16:01:40","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/pathology\/?page_id=1165"},"modified":"2020-04-28T22:36:27","modified_gmt":"2020-04-28T22:36:27","slug":"digeorge-vcfs-22q11-microdeletion","status":"publish","type":"page","link":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/digeorge-vcfs-22q11-microdeletion\/","title":{"rendered":"DiGeorge\/VCFS\/22q11\u00a0Microdeletion"},"content":{"rendered":"

[vc_row][vc_column width=”2\/3″][vc_column_text]Test Overview<\/p>\n

CPT Code(s)<\/strong><\/p>\n

Peripheral Blood: 88230-52, 88271, 88273, 88291<\/p>\n

Amniotic Fluid: 88235-52, 88271, 88273, 88291<\/p>\n

Methodology<\/strong><\/p>\n

Culture\/Hybridization\/Microscopy\/Interpretation<\/p>\n

Specimen Requirements<\/strong><\/p>\n\n\n\n\n\t\n\n\t\n\t\n\t\n\t\n\t\n\t
Type<\/th>Peripheral Blood<\/th>Amniotic Fluid<\/th>\n<\/tr>\n<\/thead>\n
Container<\/td>Sodium Heparin (green top tube)<\/td>Two 15 ml sterile leak-proof conical tubes<\/td>\n<\/tr>\n
Optimal Quantity<\/td>2-3 ml<\/td>20-25 ml<\/td>\n<\/tr>\n
Minimum Quantity<\/td>1-2 ml<\/td>10 ml<\/td>\n<\/tr>\n
Storage<\/td>Room Temperature<\/td>Room Temperature<\/td>\n<\/tr>\n
Stability at Room Temperature<\/td>Room Temperature for 8 hours, then refrigerate<\/td>Room Temperature for 8 hours, then refrigerate<\/td>\n<\/tr>\n
Transportation<\/td>Avoid freezing or heating over 35oC<\/td>Avoid freezing or heating over 35oC<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\n

The 22q11 microdeletion is associated with DiGeorge or velocardiofacial (VCFS) syndrome which is an autosomal dominant condition with variable expressivity resulting in variable phenotype.\u00a0\u00a0Patients with this deletion show characteristic features such as craniofacial anomalies, mental retardation, and congenital heart defect.\u00a0\u00a0Among the heart defects, tetralogy of Fallot is the most common.\u00a0\u00a0Several studies have recommended that any child with a congenital heart defect should be tested for 22q11 microdeletion since this deletion is very common in about 20% of patients with syndromic heart defects.\u00a0\u00a0The 22q11 microdeletion is also referred to as CATCH22 for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia.\u00a0\u00a0Since the most common deletion encompasses ~3 Mb, often these deletions are not detected on routine chromosome analysis.\u00a0\u00a0FISH is the ideal choice for detection of this deletion due to its increased sensitivity.<\/p>\n

Methods<\/strong><\/p>\n

The sample is usually cultured until sufficient number of mitotic cells is observed (48-72 hours for peripheral blood and 7-10 days for amniotic fluid) and after harvesting the cells are hybridized with the probes.\u00a0\u00a0After hybridization and post-hybridization washes, the slides are analyzed under a fluorescence microscope equipped with\u00a0epifluorescence\u00a0and appropriate filter sets.\u00a0\u00a0Analysis and scoring is carried out by two certified technologists in a blinded fashion with each scoring a minimum of 5 metaphases and 50 interphase nuclei.\u00a0\u00a0Results are reviewed by both the laboratory manager and the director.<\/p>\n

22q11 deletion (DiGeorge\u00a0\/ VCFS syndrome)\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0HIRA \/ TUPLE1\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0Cytocell\u00a0(cat #LPU004)<\/p>\n

Interpretation of Results<\/strong><\/p>\n

The morphologic interpretation and correlation of results on all cases is performed by a board-certified doctoral level scientist (laboratory director).\u00a0The final report has a narrative description of results.\u00a0\u00a0If abnormalities are present, they are explained in a paragraph which helps to clarify and correlate chromosomal findings with phenotype.\u00a0References are included in the report to help the referring physician with interpretation, which include books or journals that contain appropriate information. Recommendations are made as to any additional testing, if necessary.[\/vc_column_text][\/vc_column][vc_column width=”1\/3″][\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column width=”2\/3″][vc_column_text]Test Overview CPT Code(s) Peripheral Blood: 88230-52, 88271, 88273, 88291 Amniotic Fluid: 88235-52, 88271, 88273, 88291 Methodology Culture\/Hybridization\/Microscopy\/Interpretation Specimen Requirements The 22q11 microdeletion is associated with DiGeorge or velocardiofacial (VCFS) syndrome which is an autosomal dominant condition with variable expressivity resulting in variable phenotype.\u00a0\u00a0Patients with this deletion show characteristic features such as craniofacial anomalies, […]<\/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-1165","page","type-page","status-publish","hentry"],"yoast_head":"\nDiGeorge\/VCFS\/22q11\u00a0Microdeletion - 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\/digeorge-vcfs-22q11-microdeletion\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"DiGeorge\/VCFS\/22q11\u00a0Microdeletion - Department of Pathology and Laboratory Medicine\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=”2\/3″][vc_column_text]Test Overview CPT Code(s) Peripheral Blood: 88230-52, 88271, 88273, 88291 Amniotic Fluid: 88235-52, 88271, 88273, 88291 Methodology Culture\/Hybridization\/Microscopy\/Interpretation Specimen Requirements The 22q11 microdeletion is associated with DiGeorge or velocardiofacial (VCFS) syndrome which is an autosomal dominant condition with variable expressivity resulting in variable phenotype.\u00a0\u00a0Patients with this deletion show characteristic features such as craniofacial anomalies, […]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/digeorge-vcfs-22q11-microdeletion\/\" \/>\n<meta property=\"og:site_name\" content=\"Department of Pathology and Laboratory Medicine\" \/>\n<meta property=\"article:modified_time\" content=\"2020-04-28T22:36:27+00:00\" \/>\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\\\/digeorge-vcfs-22q11-microdeletion\\\/\",\"url\":\"https:\\\/\\\/lsom.uthscsa.edu\\\/pathology\\\/reference-labs\\\/clinical-molecular-cytogenetics\\\/digeorge-vcfs-22q11-microdeletion\\\/\",\"name\":\"DiGeorge\\\/VCFS\\\/22q11\u00a0Microdeletion - 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