Erythrocytosis, Familial, 1; Ecyt1

Description

Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). Genetic Heterogeneity of Familial ErythrocytosisSee also ECYT2 (OMIM ), caused by mutation in the VHL gene (OMIM ) on chromosome 3p25; ECYT3 (OMIM ), caused by mutation in the EGLN1 gene (OMIM ) on chromosome 1q42; and ECYT4 (OMIM ), caused by mutation in the EPAS1 gene (OMIM ) on chromosome 2p.Erythrocytosis may also be caused by somatic mutation in the JAK2 (OMIM ) or the SH2B3 (OMIM ) gene on chromosome 9p24 and 12q24, respectively.For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Erythrocytosis, Familial, 1; Ecyt1

  • Milia
  • Hypertension
  • Splenomegaly
  • Fatigue
  • Headache
  • Abdominal pain
  • Arthralgia
  • Dyspnea
  • Pruritus
  • Cough
And another 15 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Erythrocytosis, Familial, 1; Ecyt1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Juvenile Myelomonocytic Leukemia.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States.

KRAS, NRAS, PTPN11, CBL, NF1, SETBP1, ASXL1, JAK3, SH2B3
Specificity
12 %
Genes
34 %
Erythrocytosis, somatic (sequence analysis of SH2B3 gene).

By CGC Genetics in Portugal.

SH2B3
Specificity
100 %
Genes
34 %
Erythrocytosis, familial type 1.

By Centogene AG - the Rare Disease Company in Germany.

SH2B3
Specificity
100 %
Genes
34 %
Erythrocytes, Anemia Panel.

By CeGaT GmbH in Germany.

HFE, HBB, AMN, COX4I2, RPL35A, CUBN, GIF, RPS19, HBA1, G6PD, HBA2, KIF23, KLF1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, CDAN1 , (...)

View the complete list with 13 more genes
Specificity
7 %
Genes
67 %
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia.

By BLOODGENETICS BLOODGENETICS in Spain.

VHL, SH2B3, JAK2, EPOR, EPAS1, EGLN1, BPGM
Specificity
43 %
Genes
100 %
NGS HemeOnc Panel.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, DNMT3A, EZH2, KIT, ASXL1, SH2B3, FLT3, NPM1 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
67 %
Myelofibrosis NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

MPL, SH2B3, CALR, JAK2
Specificity
50 %
Genes
67 %
SH2B3.

By Fulgent Genetics Fulgent Genetics in United States.

SH2B3
Specificity
100 %
Genes
34 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
67 %
Somatic Myelofibrosis , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

MPL, SH2B3, CALR, JAK2
Specificity
50 %
Genes
67 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
EPOR Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

EPOR
Specificity
100 %
Genes
34 %
EPOR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

EPOR
Specificity
100 %
Genes
34 %
Erythrocytosis, familial (sequence analysis of EPOR gene).

By CGC Genetics in Portugal.

EPOR
Specificity
100 %
Genes
34 %
Erythrocytosis (sequence analysis of EPOR gene).

By CGC Genetics in Portugal.

EPOR
Specificity
100 %
Genes
34 %
Primary Familial and Congenital Polycythemia (PFCP) via EPOR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EPOR
Specificity
100 %
Genes
34 %
Erythrocytosis, familial type 1.

By Centogene AG - the Rare Disease Company in Germany.

EPOR
Specificity
100 %
Genes
34 %
Erythrocytosis, Familial: EPOR gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EPOR
Specificity
100 %
Genes
34 %
EPOR.

By Fulgent Genetics Fulgent Genetics in United States.

EPOR
Specificity
100 %
Genes
34 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
67 %
Familial erythrocytosis.

By Bioarray in Spain.

EPOR
Specificity
100 %
Genes
34 %
PRIMARY FAMILIAL POLYCYTHEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

EPOR
Specificity
100 %
Genes
34 %
FAMILIAL ERYTHROCYTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

EPOR
Specificity
100 %
Genes
34 %
Familial Erythrocytosis, Sequencing EPOR Gene.

By Reference Laboratory Genetics in Spain.

EPOR
Specificity
100 %
Genes
34 %
Familial Erythrocytosis , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

VHL, EPOR, EPAS1, EGLN1
Specificity
25 %
Genes
34 %
Familial erythrocytosis, 1.

By Labor Dr. Wisplinghoff in Germany.

EPOR
Specificity
100 %
Genes
34 %
Primary Familial and Congenital Polycythemia: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EPOR
Specificity
100 %
Genes
34 %
JAK2 Genotyping (V617F).

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

JAK2
Specificity
100 %
Genes
34 %
JAK2 Exon 12 Sequencing.

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

JAK2
Specificity
100 %
Genes
34 %
MyeloidDx by NGS.

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

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
MyeloidDx by NGS.

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

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
JAK2 V617F Quantitative Assay.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

JAK2
Specificity
100 %
Genes
34 %
JAK2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

JAK2
Specificity
100 %
Genes
34 %
Detection of V617F mutations on JAK2 gene.

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
34 %
JAK2 gene (mutations on exon 12).

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
34 %
JAK2 quantification.

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
34 %
Detection of mutations on exon 14 of JAK2 gene.

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
34 %
Detection of mutations on exon 14 of JAK2 gene.

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
34 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
34 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
34 %
JAK2, selective sequencing of exons 12, 14 and 16.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
34 %
Budd-Chiari syndrome.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
34 %
Thrombocythemia type 3, somatic.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
34 %
Polycythemia vera, somatic.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
34 %
Myelofibrosis, somatic.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
34 %
Leukemia, acute myelogenous.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
34 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States.

RUNX1, TP53, RB1, ATM, CDKN2A, FGFR1, KMT2A, IGH, JAK2, ABL1, PDGFRA, ETV6, BCR, RUNX1T1, PDGFRB, BCL2, PML, CBFB, RARA, TCF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Single gene testing JAK2.

By CeGaT GmbH in Germany.

JAK2
Specificity
100 %
Genes
34 %
JAK2 V617F Mutation Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

JAK2
Specificity
100 %
Genes
34 %
MPN (Meyloproliferative Neoplasms) Reflex-ET/PMF.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

JAK2
Specificity
100 %
Genes
34 %
JAK2 Exon 12 Mutation Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

JAK2
Specificity
100 %
Genes
34 %
MPN (Myeloproliferative Neoplasms) Reflex - PV.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

JAK2
Specificity
100 %
Genes
34 %
Budd-Chiari syndrome.

By Praxis fuer Humangenetik Wien in Austria.

JAK2
Specificity
100 %
Genes
34 %
Erythrocytosis, somatic.

By Praxis fuer Humangenetik Wien in Austria.

JAK2
Specificity
100 %
Genes
34 %
Thrombocythemia 3.

By Praxis fuer Humangenetik Wien in Austria.

JAK2
Specificity
100 %
Genes
34 %
JAK2 Targeted Mutation Analysis.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

JAK2
Specificity
100 %
Genes
34 %
Budd-Chiari syndrome.

By MedGene in Slovakia.

JAK2
Specificity
100 %
Genes
34 %
Erythrocytosis, somatic.

By MedGene in Slovakia.

JAK2
Specificity
100 %
Genes
34 %
Thrombocythemia 3.

By MedGene in Slovakia.

JAK2
Specificity
100 %
Genes
34 %
Polycythemia Vera: JAK2 gene sequence analysis (exon 12).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

JAK2
Specificity
100 %
Genes
34 %
Polycythemia Vera: JAK2 gene mutation analysis (V617F).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

JAK2
Specificity
100 %
Genes
34 %
Myeloproliferative disorders: MPL and JAK2 genes screening.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MPL, JAK2
Specificity
50 %
Genes
34 %
JAK2.

By Fulgent Genetics Fulgent Genetics in United States.

JAK2
Specificity
100 %
Genes
34 %
Onco microarray for ALL.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

TP53, RB1, CDKN2A, PAX5, JAK2, IKZF1, ETV6, PDGFRB, EBF1, BTG1
Specificity
10 %
Genes
34 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
34 %
JAK2 V617F Mutation Analysis.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

JAK2
Specificity
100 %
Genes
34 %
JAK2 Exon 12 Mutation Analysis.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

JAK2
Specificity
100 %
Genes
34 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, GATA2, CEBPA, MPL, ATRX, PHF6 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Focus::MDS™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, CEBPA, SETBP1, DNMT3A, EZH2, KDM6A, KMT2A, ASXL1, FLT3, JAK2, ZRSR2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Focus::MPN™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, IDH2, BCOR, CBL, CEBPA, MPL, SETBP1, GATA1, DNMT3A, EZH2, KIT, ASXL1, JAK3, CALR, FLT3, JAK2, ABL1, U2AF1, TET2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Focus::AML™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, GATA1, DNMT3A, EZH2, KDM6A, KMT2A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
Focus::Oncomine™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, CTNNB1, MTOR, ERBB3, KIT, JAK3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
34 %
JAK2 gene.

By Bioarray in Spain.

JAK2
Specificity
100 %
Genes
34 %
Haemato-oncology.

By Bioarray in Spain.

JAK2
Specificity
100 %
Genes
34 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
34 %
Hematopoietic Disorders Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
JAK2 V617F Mutation Testing.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University in United States.

JAK2
Specificity
100 %
Genes
34 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
34 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
34 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
34 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Circulo Hematological.

By Circulogene Theranostics in United States.

JAK2
Specificity
100 %
Genes
34 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
34 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
34 %
HYPEREOSINOPHILIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

JAK2
Specificity
100 %
Genes
34 %
ESSENTIAL THROMBOCYTOSIS (ESSENTIAL THROMBOCYTHEMIA).

By Laboratorio de Genetica Clinica SL in Spain.

MPL, CALR, JAK2
Specificity
34 %
Genes
34 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

PPARG, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, NTRK1, FGFR1, CTNNB1, MTOR , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Polycythemia Vera, Sequencing Exon 12 JAK2 Gene Bone Marrow.

By Reference Laboratory Genetics in Spain.

JAK2
Specificity
100 %
Genes
34 %
Polycythemia Vera, Sequencing Exon 12 JAK2 Gene Whole Blood.

By Reference Laboratory Genetics in Spain.

JAK2
Specificity
100 %
Genes
34 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
34 %
Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, JAK2, GP1BB, SRC, GP9
Specificity
7 %
Genes
34 %
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

RUNX1, TP53, WT1, IDH2, KRAS, NSD1, GATA2, CEBPA, DNMT3A, TERC, TERT, KIT, ASXL1, FLT3, NPM1, JAK2, IDH1, PICALM, CBFB, LPP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
34 %
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RUNX1, TP53, IDH2, BRAF, PTPN11, ALK, CEBPA, MPL, NF1, NOTCH1, DNMT3A, KMT2A, KIT, ASXL1, FLT3, NPM1, JAK2, ABL1, TET2, PDGFRA , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11, CDKN2A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %

Alternate names

Erythrocytosis, Familial, 1; Ecyt1 Is also known as polycythemia, primary familial and congenital;pfcp, erythrocytosis, autosomal dominant benign;congenital erythrocytosis due to erythropoietin receptor mutation; congenital polycythemia due to erythropoietin receptor mutation; familial erythrocytosis; pfcp; primary congenital erythrocytosis; primary familial and congenital polycythemia.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE; TETAMS HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more