Familial Thrombocytosis

Description

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Thrombocytosis

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis
  • Weight loss
  • Pruritus
  • Paresthesia
  • Vertigo
  • Abnormal bleeding

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Familial Thrombocytosis Is also known as familial thrombocythemia, hereditary thrombocythemia.

Researches and researchers

Doctors, researchs, and experts related to Familial Thrombocytosis extracted from public data.

Familial Thrombocytosis Experts map



Current Researchs and researchers

  • VILLEJUIF — Dr William VAINCHENKER

    Investigator of research project

    • Institution/s:
      — CLCC Institut Gustave Roussy
    • Research area/topic::

      Thrombocytosis: Mechanisms of acquired and familial thrombocytosis



Mendelian

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Familial Thrombocytosis 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
34 %
JAK2 Exon 12 Sequencing.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

JAK2
Specificity
100 %
Genes
34 %
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
4 %
Genes
67 %
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
4 %
Genes
67 %
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
34 %
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
75 %
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
34 %
JAK2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

JAK2
Specificity
100 %
Genes
34 %

We have 146 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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