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Inherited Thrombocytopenia Panel Thrombocytopenia Will Be Identified with This Panel, Including Aug; 43(8): 732–734

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Inherited Thrombocytopenia Panel Thrombocytopenia Will Be Identified with This Panel, Including Aug; 43(8): 732–734 Shipping requirements References Ship on an ice pack or at room Albers CA, Paul DS et al. 2012. Compound inheritance of a low-frequency temperature. Protect from freezing. regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012 Feb 26; 44(4):435-9. Place the specimen and the requisition Inherited into plastic bags and seal. Insert into Ali S, Ghosh K et al. 2016. Congenital macrothrombocytopenia is a heterogeneous disorder in India. Haemophilia. Jul; 22(4):570-82. a Styrofoam container, seal and place Balduini CL, Pecci A, Savoia A. 2011. Recent advances in the understanding and into a sturdy cardboard box, and management of MYH9-related inherited thrombocytopenias. Br J Haematol. tape securely. Ship the package in Jul;154(2):161-174. Thrombocytopenia compliance with your overnight carrier ORDER SHIP Balduini CL, Melazzini F, Pecci A. 2017. Inherited thrombocytopenias-recent guidelines. Label with the following advances in clinical and molecular aspects. Platelets. Jan;28(1):3-13. address: Bastida JM, Del Rey M et al. 2016. Wiskott-Aldrich syndrome in a child presenting Client Services/Diagnostic Laboratory with macrothrombocytopenia Platelets. Nov 25:1-4. Panel BloodCenter of Wisconsin Bottega R, Marconi C et al. 2015. ACTN1-related thrombocytopenia: identification 638 N. 18th St. of novel families for phenotypic characterization. Blood. Jan 29;125(5):748-50. Milwaukee, WI 53233 Favier R, Raslova H. 2015. Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias. Br J Haematol. Sep;170 (5):626-39. Gunay-Aygun M, Falik-Zaccai TC et al. 2011. NBEAL2 is mutated in Gray Platelet BloodCenter of Wisconsin offers a specifically recessive manner. More common and rare types of inherited Required forms Syndrome and is required for biogenesis of platelet alpha-granules. Nat Genet. designed Inherited Thrombocytopenia Panel thrombocytopenia will be identified with this panel, including Aug; 43(8): 732–734. MYH9-related disorders, Bernard-Soulier syndrome, congenital Please complete all pages of the (test code 4840) optimized for detection of requisition form. Clinical history Kumar R, Kahr WHA. 2013. Congenital Thrombocytopenia: Clinical Manifestations, amegakaryocytic thrombocytopenia, familial platelet disorder Laboratory Abnormalities, and Molecular Defects of a Heterogeneous Group of germline variants in 23 genes known to cause with predisposition to acute myelogenous leukemia, ANKRD26- (including patient’s ethnicity, clinical Conditions. Hematol Oncol Clin North Am. June; 27(3):465-94. diagnosis, family history and relevant inherited thrombocytopenia. related thrombocytopenia, WAS-related thrombocytopenia, gray Manchev VT, Hilpert M et al. 2014. A new form of macrothrombocytopenia platelet syndrome and others. Additional genes in this panel are laboratory findings) is necessary for induced by a germ-line mutation in the PRKACG gene. Blood.Oct 16;124(16):2554- optimal interpretation of genetic test 63. associated with syndromes that have thrombocytopenia as a Inherited thrombocytopenia is a heterogeneous group of common finding among other non-hematologic features. results and recommendations. Clinical Noris P, Biino G et al. 2014. Platelet diameters in inherited thrombocytopenias: disorders characterized by low platelet counts typically less than ORDER and laboratory history can eitherSHIP be analysis of 376 patients with all known disorders. Aug 7; 124(6):e4-e10. This panel evaluates for single nucleotide variants and small 150,000/uL, but often can vary with age, gender and ethnic recorded on the requisition form or Noris P, Favier R et al. 2013. ANKRD26-related thrombocytopenia and myeloid deletions and duplications, which are most commonly clinical and laboratory reports can be malignancies. Blood .122:1987-1989. background. Symptoms of thrombocytopenia may include responsible for genetic disease. However, large deletions and submitted with the sample. Ok Bozkaya I, Yarali N et al. Severe Clinical Course in a Patient with Congenital purpura, petechiae, prolonged bleeding from cuts, epistaxis, gum duplications, also referred to as copy number variants (CNV), are Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL bleeding, excessive bleeding after surgery, hemoptysis, hematuria a known cause of genetic disorders, but can escape detection Gene. Turk J Haematol.Jun; 32(2): 172-4. and menorrhagia in women. Severe inherited thrombocytopenias by next-generation sequence analysis. Further testing with CPT Codes/Billing/Turnaround time Pagel J, Beutel K et al. 2012. Distinct mutations in STXBP2 are associated can present in the newborn period, while mild thrombocytopenia the BloodCenter of Wisconsin custom designed, high density with variable clinical presentations in patients with familial hemophagocytic may remain undiagnosed until incidental detection on gene-focused array, aCGH Deletion/Duplication Analysis, allows Test Code: 4840 lymphohistiocytosis type 5 (FHL5). Blood. 119:6016-6024. routine blood testing in adulthood. Some inherited types of for the possible detection of large deletions and duplications CPT codes: 81404, 81406, 81479 Saultier P,Vidal, L.et al. 2017. Macrothrombocytopenia and dense granule thrombocytopenia have only hematologic manifestations, within a single exon of a given gene, encompassing one or more deficiency associated with FLI1 variants: ultrastructural and pathogenic features. such as differences in platelet size or distinctive granulocyte Turnaround time: 21 days Haematologica.102:1006-1016. exons, or affecting an entire gene. This testing may be warranted inclusions, while other syndromic types present with additional when results of sequence analysis do not fully explain a clinical The CPT codes provided are subject to change as more Savoia A. 2016. Molecular basis of Inherited thrombocytopenias. Clin Genet non-hematologic manifestations. Certain types of inherited information becomes available. CPT codes are provided only as Feb;89(2):154-62. phenotype, or when a suspected disorder is known to be caused thrombocytopenia cause predisposition to acute myelogenous by deletions or duplications. Please refer to the aCGH Deletion/ guidance to assist clients with billing. Savoia A. 2016. Molecular basis of Inherited thrombocytopenias: an update. leukemia or myelodysplastic syndromes. Current Opinion in Hematology. Sep;23(5):486-492. Duplication Analysis test description for more information about For additional information related to shipping, billing or pricing, Misdiagnosis of inherited thrombocytopenia as autoimmune specific genes included in this array. please contact, BloodCenter Client Services: (414) 937-6396 or Kunishima Shinji S, Kobayashi R et al. 2009. Mutation of the β1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule thrombocytopenia (ITP) can result in inappropriate therapies and 800-245-3117, Option 1, or [email protected]. Inherited platelet disorders associated with platelet dysfunction assembly. Blood. 113:458-461. inadequate surveillance for additional medical complications, are included in the Platelet Function Disorder Panel. For broader Stevenson WS, Rabbolini DJ et al. 2015. Paris-Trousseau thrombocytopenia is underscoring the importance of accurate diagnosis. Advances in evaluation of unspecified platelet problems, both the Inherited phenocopied by the autosomal recessive inheritance of a DNA-binding domain genetic testing through next-generation sequencing allow for Thrombocytopenia Panel and Platelet Function Disorder Panel mutation in FLI1. Blood. Oct 22;126(17); 2027-30. identification of underlying genetic defects and for distinguishing can be ordered together as part of the Comprehensive Platelet Zhang My, Churpek JE et al. 2015. Germline ETV6 mutations in familial inherited cases from immune thrombocytopenia. Accurate Disorder Panel. thrombocytopenia and hematologic malignancy. Nat Genet. Feb; 47(2):180-185. diagnosis provides information about the phenotype and prognosis, guides medical management decisions, assists with the Refer to the table inside for further information about each identification of affected family members, and allows for accurate gene in the Inherited Thrombocytopenia Panel, including the genetic recurrence risk assessment. clinical phenotype, OMIM numbers and inheritance pattern. Variants in several different genes known to cause syndromic or non-syndromic thrombocytopenia may be inherited in an autosomal recessive, autosomal dominant or X-linked © Copyright 2017 r0818 BloodCenter of Wisconsin, Inc. , Part of Versiti. All rights reserved. Inherited Thrombocytopenia Panel: gene, clinical phenotype, OMIM number and inheritance pattern. Inherited Thrombocytopenia Panel: gene, clinical phenotype, OMIM number and inheritance pattern. Gene Clinical Phenotype Phenotype/Gene Inheritance Gene Clinical Phenotype Phenotype/Gene Inheritance OMIM number OMIM number ACTN1 Bleeding disorder, platelet-type 15 (BDPT15): macrothrombocytopenia with mild or 615193/102575 Autosomal Dominant MPL Congenital amegakaryocytic thrombocytopenia (CAMT): type 1-onset in infancy with 604498/159530 Autosomal Recessive absent bleeding tendency. severe thrombocytopenia and progressing to pancytopenia; type II with transient increases in platelet counts with onset of bone marrow failure at age 3 or later. ANKRD26 Thrombocytopenia-2 (THC2): mild bleeding tendency with normal platelet function and 188000/610855 Autosomal Dominant morphology
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