Thrombocythemia 3; Thcyt3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012).For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (OMIM ).

Genes related to Thrombocythemia 3; Thcyt3

JAK2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Thrombocythemia 3; Thcyt3

Splenomegaly
Myocardial infarction
Thrombocytosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Thrombocythemia 3; Thcyt3 Is also known as thrombocytosis 3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Thrombocythemia 3; Thcyt3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
JAK2 Genotyping (V617F). By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). JAK2 Specificity 100 % Genes 100 %
JAK2 Exon 12 Sequencing. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). JAK2 Specificity 100 % Genes 100 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...) View the complete list with 32 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 100 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...) View the complete list with 31 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 100 %
JAK2 V617F Quantitative Assay. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). JAK2 Specificity 100 % Genes 100 %
Thrombocytosis Panel by next generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). THPO, CALR, JAK2, MPL Specificity 25 % Genes 100 %
Erythrocytosis Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). BPGM, EGLN1, VHL, EPAS1, EPOR, HBA1, HBA2, HBB, JAK2 Specificity 12 % Genes 100 %
JAK2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). JAK2 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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