Thrombocythemia 3; Thcyt3

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 ).

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.


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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
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
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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