Thrombosis Panel (Test Code 4820) Please Complete All Pages of the Mammalian Plasma
Total Page：16
File Type：pdf, Size：1020Kb
Shipping requirements References Ship on an ice pack or at room Alhenc-Gelas M, Plu-Bureau G, Hugon-Rodin J, Picard V, Horellou MH; GFHT study temperature. Protect from freezing. group on Genetic Thrombophilia. 2017. Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency. Place the specimen and the requisition Thrombosis Thromb Haemost. Mar 16. doi: 10.1160/TH16-08-0635. into plastic bags and seal. Insert into Desch KC. 2015. Dissecting the Genetic Determinants of Hemostasis and a Styrofoam container, seal and place Thrombosis Curr Opin Hematol. September; 22(5):428–436. into a sturdy cardboard box, and De Stefano V, Rossi E. 2013. Testing for inherited thrombophilia and consequences tape securely. Ship the package in for antithrombotic prophylaxis in patients with venous thromboembolism and Panel ORDER SHIP compliance with your overnight carrier their relatives. A review of the Guidelines from Scientific Societies and Working guidelines. Label with the following Groups. Thromb Haemost. Oct;110(4):697-705. address: Fukushima N, Itamura H et al. 2014. A Novel Frameshift Mutation in Exon 4 Causing Client Services/Diagnostic Laboratory a Deficiency of High-molecular-weight Kininogen in a Patient with Splenic Infarction. Intern Med 53: 253-257. BloodCenter of Wisconsin 638 N. 18th St. Martinelli I, De Stefano V, Mannucci PM. 2014. Inherited risk factors for venous thromboembolism. Nat Rev Cardiol. Mar;11(3):140-56. Milwaukee, WI 53233 Mukai S, Nagata K et al. 2016. Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A. Thromb Res. Dec;148:111-117. BloodCenter of Wisconsin offers a specifically This panel evaluates for single nucleotide variants and small Required forms deletions and duplications, which are most commonly Poon IKH, Patel KK et al. 2011. Histidine-rich glycoprotein: the Swiss Army knife of designed Thrombosis Panel (test code 4820) Please complete all pages of the mammalian plasma. Blood.117:2093-2101. responsible for genetic disease. However, large deletions and optimized for detection of germline variants duplications, also referred to as copy number variants (CNV), are requisition form. Clinical history Rehm HL, Bale SJ et al. 2013. Working Group of the American College of Medical (including patient’s ethnicity, clinical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG clinical in 12 genes known to be associated with a known cause of genetic disorders, but can escape detection diagnosis, family history and relevant laboratory standards for next-generation sequencing. Genet Med.15:733-747. an increased risk for developing venous by next-generation sequence analysis. Further testing with the BloodCenter of Wisconsin custom designed, high-density laboratory findings) is necessary for Richards S, Aziz N A et al. 2015. Standards and guidelines for the interpretation of thromboembolism. optimal interpretation of genetic test sequence variants: a joint consensus recommendation of the American College gene-focused array, aCGH Deletion/Duplication Analysis, allows of Medical Genetics and Genomics and the Association for Molecular Pathology. ORDER results and recommendations. ClinicalSHIP for the possible detection of large deletions and duplications Genet Med.17:405-424. within a single exon of a given gene, encompassing one or more and laboratory history can either be Venous thromboembolism (VTE), including deep vein thrombosis Tang L, Wang HF et al. 2013. Common Genetic Risk Factors for Venous Thrombosis exons, or affecting an entire gene. This testing may be warranted recorded on the requisition form or (DVT) and pulmonary embolism (PE) is a common, yet complex in the Chinese Population. Am J Hum Genet. Feb 7; 92(2): 177–187. when results of sequence analysis do not fully explain a clinical clinical and laboratory reports can be disorder. Inherited risk factors involved in the pathogenesis of Stevens SM, Woller SC et al. 2016. Guidance for the evaluation and treatment of phenotype, or when a suspected disorder is known to be caused submitted with the sample. this disorder include inherited thrombophilias that are caused hereditary and acquired thrombophilia. J Thromb Thromolysis. 41:154-164. by deletions or duplications. Please refer to the aCGH Deletion/ by loss-of-function of anticoagulant proteins, gain-of-function Trégouët DA, Delluc A, et al. 2016. Is there still room for additional common Duplication Analysis test description for more information about susceptibility alleles for venous thromboembolism? J Thromb Haemost. of procoagulants or defects in the fibrinolytic pathways. These specific genes included in this array. CPT Codes/Billing/Turnaround time Sep;14(9):1798-802. inherited risk factors, together with acquired risk factors, Test Code: 4820 Zhao L, Liu B, Li C. 2015. Progress in research into the genes associated with venous predispose an individual to thrombosis. Not all individuals Refer to the table inside for further information about each thromboembolism. World J Emerg Med. 6(2):100–104. with a genetic predisposition to thrombosis will develop gene, clinical phenotype, OMIM number and inheritance CPT codes: 81479 VTE; the relative risk for thrombosis may be influenced by the pattern. Turnaround time: 21 days specific variant present, whether the variant(s) is heterozygous, The CPT codes provided are subject to change as more compound heterozygous or homozygous, the concomitance information becomes available. CPT codes are provided only as of other pathogenic variants, a family history of DVT, as well guidance to assist clients with billing. as the presence of other inherited, and/or acquired risk factors. Identifying individuals who have an increased genetic For additional information related to shipping, billing or pricing, susceptibility for VTE may assist providers in developing an please contact, BloodCenter Client Services: (414) 937-6396 or individualized risk assessment which in some cases may guide 800-245-3117, Option 1, or [email protected]. management decisions, assist with the identification of affected family members and allow for accurate genetic recurrence risk assessment. In addition, the identification of women who have one or more inherited thrombophilia variants may provide important information for contraception and pregnancy management. This panel includes Factor V Leiden and prothrombin 20210G>A variants, genes associated with coagulation factor regulatory proteins (ADAMTS13, protein C, protein S, and antithrombin), as well as other genes that are associated with an increased risk for thrombosis. Disorders in this panel may be inherited in an autosomal dominant and/or autosomal recessive manner. © Copyright 2017 r0818 BloodCenter of Wisconsin, Inc. , Part of Versiti. All rights reserved. Thrombosis Panel: gene, clinical phenotype, OMIM number and inheritance pattern. Indications for testing Assay sensitivity and limitations Gene Clinical Phenotype Phenotype/Gene Inheritance Thrombosis Panel: The analytical sensitivity of this test is >99% for single nucleotide OMIM number • Clarification and/or confirmation of diagnosis in a patient with changes and insertions and deletions of less than 20 bp. This ADAMTS13 Upshaw-Schulman syndrome: congenital thrombotic thrombocytopenic purpura (TTP), a 274150/604134 Autosomal Recessive clinical findings of thromboembolism which may be related to assay does not detect large deletions or duplications (>20 bp) life-threatening condition characterized by consumption of platelets, hemolytic anemia, one or more genes or deletions, duplications or variants that are outside the regions and varying degrees of organ dysfunction that presents in childhood, or in adults with sequenced. To order analysis of copy number variation at the presentation often triggered by stress events, such as pregnancy. • Identification of individuals at increased susceptibility for exon or gene level, please refer to the aCGH Deletion/Duplication F2 Prothrombin 20210G>A variant only: the relative risk for venous thromboembolism in 188050/176930 Autosomal Dominant thrombosis due to a family history of an unspecified thrombosis Analysis test, if available, or contact Client Services before placing heterozygotes is increased two-to-fivefold and may be higher in the presence of other disorder to provide thrombotic risk assessment which may your order. factors. Homozygotes are expected to have an increased relative risk over heterozygotes. assist with treatment and management, reproductive risk F5 Factor V Leiden variant only: the most common inherited form of thrombophilia 188055/612309 Autosomal Dominant assessment and genetic counseling Reporting of results due to activated protein C (APC) resistance. The risk for venous thromboembolism is Single gene sequencing or custom gene panel: While this assay is designed to detect germline genetic variants increased three-to-eightfold in factor V Leiden heterozygotes and ten-to-eightyfold in associated with thrombosis risk, variants unrelated to the homozygotes. • Analysis of genes included in the Thrombosis Panel may also indication for testing, but with other clinical and/or reproductive be ordered as a stand-alone single gene sequencing test or FGA Pathogenic variants in FGA, FGB and FGG result in quantitative and/or qualitative 202400/134820 Autosomal Recessive implications, may also be detected. A comprehensive database of changes in the fibrinogen alpha, beta or gamma