Familial Thrombocytosis

Table of contents:

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

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.

Genes related to Familial Thrombocytosis

JAK2
MPL
THPO

View recommended genes panels

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.

Click here to know more about Mendelian.

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

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

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 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 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 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 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 %