Myelofibrosis

Description

Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.

Clinical Features

Top most frequent phenotypes and symptoms related to Myelofibrosis

  • Milia
  • Splenomegaly
  • Fever
  • Hepatosplenomegaly
  • Pallor
  • Pancytopenia
  • Hemangioma
  • Purpura
  • Myeloproliferative disorder
  • Hemophagocytosis
And another 1 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Myelofibrosis have a estimated incidence of 1 per 100k worldwide.


Mendelian

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Myelofibrosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Calreticulin, Exon 9 Mutation Analysis.

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

CALR
Specificity
100 %
Genes
20 %
CALR Exon 9 Mutation Analysis.

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

CALR
Specificity
100 %
Genes
20 %
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
8 %
Genes
80 %
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
6 %
Genes
60 %
CALR gene (sequence analysis of exon 9).

By CGC Genetics in Portugal.

CALR
Specificity
100 %
Genes
20 %
Sequence analysis of CALR gene.

By CGC Genetics in Portugal.

CALR
Specificity
100 %
Genes
20 %
JAK2 and CALR targeted mutation testing.

By Molecular Diagnostics Laboratory University Health Network in Canada.

CALR
Specificity
100 %
Genes
20 %
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
8 %
Genes
80 %
CALR, selective sequencing of exon 9.

By Centogene AG - the Rare Disease Company in Germany.

CALR
Specificity
100 %
Genes
20 %
Schizophrenia, CALR related.

By Centogene AG - the Rare Disease Company in Germany.

CALR
Specificity
100 %
Genes
20 %
CALR Mutation Analysis.

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

CALR
Specificity
100 %
Genes
20 %
Myeloproliferative disorders: Exon 9 CARL gene.

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

CALR
Specificity
100 %
Genes
20 %
Myelofibrosis NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

MPL, SH2B3, CALR, JAK2
Specificity
100 %
Genes
80 %
CALR.

By Fulgent Genetics Fulgent Genetics in United States.

CALR
Specificity
100 %
Genes
20 %
CALR Mutation Analysis.

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

CALR
Specificity
100 %
Genes
20 %
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
8 %
Genes
80 %
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
8 %
Genes
80 %
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
16 %
Genes
80 %
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
11 %
Genes
80 %
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
8 %
Genes
80 %
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
100 %
ESSENTIAL THROMBOCYTOSIS (ESSENTIAL THROMBOCYTHEMIA).

By Laboratorio de Genetica Clinica SL in Spain.

MPL, CALR, JAK2
Specificity
100 %
Genes
60 %
Essential Thrombocythemia , Mutations CALR Gene.

By Reference Laboratory Genetics in Spain.

CALR
Specificity
100 %
Genes
20 %
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
6 %
Genes
60 %
Somatic Myelofibrosis , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

MPL, SH2B3, CALR, JAK2
Specificity
100 %
Genes
80 %
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 %
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
20 %
Erythrocytosis, somatic (sequence analysis of SH2B3 gene).

By CGC Genetics in Portugal.

SH2B3
Specificity
100 %
Genes
20 %
Erythrocytosis, familial type 1.

By Centogene AG - the Rare Disease Company in Germany.

SH2B3
Specificity
100 %
Genes
20 %
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
4 %
Genes
20 %
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia.

By BLOODGENETICS BLOODGENETICS in Spain.

VHL, SH2B3, JAK2, EPOR, EPAS1, EGLN1, BPGM
Specificity
29 %
Genes
40 %
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
14 %
Genes
80 %
SH2B3.

By Fulgent Genetics Fulgent Genetics in United States.

SH2B3
Specificity
100 %
Genes
20 %
JAK2 Genotyping (V617F).

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

JAK2
Specificity
100 %
Genes
20 %
JAK2 Exon 12 Sequencing.

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

JAK2
Specificity
100 %
Genes
20 %
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
20 %
JAK2. Complete sequencing.

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

JAK2
Specificity
100 %
Genes
20 %
Detection of V617F mutations on JAK2 gene.

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
20 %
JAK2 gene (mutations on exon 12).

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
20 %
JAK2 quantification.

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
20 %
Detection of mutations on exon 14 of JAK2 gene.

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
20 %
Detection of mutations on exon 14 of JAK2 gene.

By CGC Genetics in Portugal.

JAK2
Specificity
100 %
Genes
20 %
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
3 %
Genes
40 %
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
20 %
JAK2, selective sequencing of exons 12, 14 and 16.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
20 %
Budd-Chiari syndrome.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
20 %
Thrombocythemia type 3, somatic.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
20 %
Polycythemia vera, somatic.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
20 %
Myelofibrosis, somatic.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
20 %
Leukemia, acute myelogenous.

By Centogene AG - the Rare Disease Company in Germany.

JAK2
Specificity
100 %
Genes
20 %
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
20 %
Single gene testing JAK2.

By CeGaT GmbH in Germany.

JAK2
Specificity
100 %
Genes
20 %
JAK2 V617F Mutation Analysis.

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

JAK2
Specificity
100 %
Genes
20 %
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
20 %
JAK2 Exon 12 Mutation Analysis.

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

JAK2
Specificity
100 %
Genes
20 %
MPN (Myeloproliferative Neoplasms) Reflex - PV.

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

JAK2
Specificity
100 %
Genes
20 %
Budd-Chiari syndrome.

By Praxis fuer Humangenetik Wien in Austria.

JAK2
Specificity
100 %
Genes
20 %
Erythrocytosis, somatic.

By Praxis fuer Humangenetik Wien in Austria.

JAK2
Specificity
100 %
Genes
20 %
Thrombocythemia 3.

By Praxis fuer Humangenetik Wien in Austria.

JAK2
Specificity
100 %
Genes
20 %
JAK2 Targeted Mutation Analysis.

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

JAK2
Specificity
100 %
Genes
20 %
Budd-Chiari syndrome.

By MedGene in Slovakia.

JAK2
Specificity
100 %
Genes
20 %
Erythrocytosis, somatic.

By MedGene in Slovakia.

JAK2
Specificity
100 %
Genes
20 %
Thrombocythemia 3.

By MedGene in Slovakia.

JAK2
Specificity
100 %
Genes
20 %
Polycythemia Vera: JAK2 gene sequence analysis (exon 12).

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

JAK2
Specificity
100 %
Genes
20 %
Polycythemia Vera: JAK2 gene mutation analysis (V617F).

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

JAK2
Specificity
100 %
Genes
20 %
Myeloproliferative disorders: MPL and JAK2 genes screening.

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

MPL, JAK2
Specificity
100 %
Genes
40 %
JAK2.

By Fulgent Genetics Fulgent Genetics in United States.

JAK2
Specificity
100 %
Genes
20 %
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
20 %
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
4 %
Genes
40 %
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
40 %
JAK2 V617F Mutation Analysis.

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

JAK2
Specificity
100 %
Genes
20 %
JAK2 Exon 12 Mutation Analysis.

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

JAK2
Specificity
100 %
Genes
20 %
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
8 %
Genes
40 %
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
20 %
JAK2 gene.

By Bioarray in Spain.

JAK2
Specificity
100 %
Genes
20 %
Haemato-oncology.

By Bioarray in Spain.

JAK2
Specificity
100 %
Genes
20 %
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
20 %
JAK2 V617F Mutation Testing.

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

JAK2
Specificity
100 %
Genes
20 %
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
60 %
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
3 %
Genes
40 %
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
4 %
Genes
40 %
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
4 %
Genes
40 %
Circulo Hematological.

By Circulogene Theranostics in United States.

JAK2
Specificity
100 %
Genes
20 %
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
60 %
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
3 %
Genes
60 %
HYPEREOSINOPHILIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

JAK2
Specificity
100 %
Genes
20 %
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
20 %
Polycythemia Vera, Sequencing Exon 12 JAK2 Gene Bone Marrow.

By Reference Laboratory Genetics in Spain.

JAK2
Specificity
100 %
Genes
20 %
Polycythemia Vera, Sequencing Exon 12 JAK2 Gene Whole Blood.

By Reference Laboratory Genetics in Spain.

JAK2
Specificity
100 %
Genes
20 %
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
14 %
Genes
40 %
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
20 %
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
2 %
Genes
40 %
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
14 %
Genes
60 %
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
5 %
Genes
40 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
20 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
20 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
20 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
20 %
Bone Marrow Failure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

BRCA2, RPL35A, FANCC, RPS19, TINF2, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, MPL, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
20 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

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

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
20 %
MPL Sequencing.

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

MPL
Specificity
100 %
Genes
20 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

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

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
20 %
MPL Deletion/duplication analysis.

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

MPL
Specificity
100 %
Genes
20 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
20 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
20 %
MPL Gene Sequencing.

By GeneDx in United States.

MPL
Specificity
100 %
Genes
20 %
Congenital Amegakaryocytic Thrombocytopaenia.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

MPL
Specificity
100 %
Genes
20 %
MPL. Complete sequencing.

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

MPL
Specificity
100 %
Genes
20 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
20 %
Congenital amegakaryocytic thrombocytopenia (sequence analysis of MPL gene).

By CGC Genetics in Portugal.

MPL
Specificity
100 %
Genes
20 %
Sequence analysis of exon 10 of MPL gene (includes W515L/K mutation).

By CGC Genetics in Portugal.

MPL
Specificity
100 %
Genes
20 %
Thrombocytopenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
9 %
Genes
20 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
20 %
Congenital Amegakaryocytic Thrombocytopenia (CAMT) and Thrombocythemia 2 via the MPL Gene.

By PreventionGenetics PreventionGenetics in United States.

MPL
Specificity
100 %
Genes
20 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, ETV6 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
20 %
Thrombocytopenia NGS Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
20 %
Thrombocytopenia Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
20 %
Thrombocytopenia Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
20 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
20 %
MPL.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MPL
Specificity
100 %
Genes
20 %
Thrombocytopenia panel.

By Centogene AG - the Rare Disease Company in Germany.

RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, GP9
Specificity
9 %
Genes
20 %
Myelofibrosis with myeloid metaplasia, somatic.

By Centogene AG - the Rare Disease Company in Germany.

MPL
Specificity
100 %
Genes
20 %
Thrombocytopenia congenital amegakaryocytic.

By Centogene AG - the Rare Disease Company in Germany.

MPL
Specificity
100 %
Genes
20 %
Single gene testing MPL.

By CeGaT GmbH in Germany.

MPL
Specificity
100 %
Genes
20 %
Thrombocytopenia Panel.

By CeGaT GmbH in Germany.

AP3B1, MPL, MYH9, GATA1, THBD, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, RBM8A, GP9
Specificity
8 %
Genes
20 %
Thrombocytopenia.

By Asper Biogene Asper Biogene LLC in Estonia.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGA2B, MASTL, GP1BB, GP9
Specificity
8 %
Genes
20 %
MPL Sequence Analysis.

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

MPL
Specificity
100 %
Genes
20 %
MPL Exon 10 Mutation Analysis.

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

MPL
Specificity
100 %
Genes
20 %
aCGH Deletion/Duplication Analysis.

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

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
20 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
20 %
Invitae Congenital Amegakaryocytic Thrombocytopenia Test.

By Invitae in United States.

MPL
Specificity
100 %
Genes
20 %
Invitae Bone Marrow Failure Syndromes Panel.

By Invitae in United States.

BRCA2, RUNX1, RPL35A, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, WAS, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
20 %
Myeloproliferative disorders: MPL gene screening.

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

MPL
Specificity
100 %
Genes
20 %
Amegakaryocytic thrombocytopenia, Congenital: MPL gene sequence analysis.

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

MPL
Specificity
100 %
Genes
20 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ATP7B, BCKDHA, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
20 %
Congenital amegakaryocytic thrombocytopenia.

By Integrated Genetics Westborough Integrated Genetics in United States.

MPL
Specificity
100 %
Genes
20 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
20 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
20 %
Thrombocytopenia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
10 %
Genes
20 %
MPL.

By Fulgent Genetics Fulgent Genetics in United States.

MPL
Specificity
100 %
Genes
20 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
20 %
Thrombocytopenia Panel.

By Blueprint Genetics in Finland.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, THBD, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
20 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
20 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
20 %
MPL515/505 Mutation Analysis.

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

MPL
Specificity
100 %
Genes
20 %
Congenital amegakaryocytic thrombocytopenia.

By Bioarray in Spain.

MPL
Specificity
100 %
Genes
20 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
20 %
Circulo Hematological.

By Circulogene Theranostics in United States.

MPL
Specificity
100 %
Genes
20 %
Inherited Bone Marrow Failure Panel.

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

BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
20 %
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA.

By Laboratorio de Genetica Clinica SL in Spain.

MPL, HOXA11
Specificity
50 %
Genes
20 %
FAMILIAL THROMBOCYTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

MPL, THPO
Specificity
50 %
Genes
20 %
Congenital Amegakaryocytic Thrombocytopenia , Sequencing MPL Gene.

By Reference Laboratory Genetics in Spain.

MPL
Specificity
100 %
Genes
20 %
TET2 Sequencing.

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

TET2
Specificity
100 %
Genes
20 %
Myelodysplastic Syndrome (sequence analysis of TET2 gene).

By CGC Genetics in Portugal.

TET2
Specificity
100 %
Genes
20 %
Myelodysplastic syndrome (mutations on TET2 gene).

By CGC Genetics in Portugal.

TET2
Specificity
100 %
Genes
20 %
Myelodysplastic syndrome susceptibility.

By Centogene AG - the Rare Disease Company in Germany.

TET2
Specificity
100 %
Genes
20 %
Myelodysplastic syndrome, somatic.

By Centogene AG - the Rare Disease Company in Germany.

TET2
Specificity
100 %
Genes
20 %
Platelets, Coagulation disorders Panel.

By CeGaT GmbH in Germany.

F2, F5, VHL, ENTPD1, F11, VWF, F8, ADAMTS13, SERPINE1, TET2, ETV6, PDGFRB, F10, F12, DSG1, F13A1, SERPINC1
Specificity
6 %
Genes
20 %
TET2.

By Fulgent Genetics Fulgent Genetics in United States.

TET2
Specificity
100 %
Genes
20 %
Focus::MCL™ NGS Panel.

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

PTEN, TP53, ATM, CDKN2A, BTK, GRIN2A, KMT2D, FAT4, NOTCH1, EZH2, ABCC9, SMARCA4, TET2, MYD88, PIK3CD, SI, POT1, NSD2, KDR, PLCG2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
20 %
Focus::DLBCL&FL™ NGS Panel.

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

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
20 %
Focus::Lymphoma™ NGS Panel.

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

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
20 %
Somatic Myelodysplastic Syndrome, Sequencing TET2 Gene.

By Reference Laboratory Genetics in Spain.

TET2
Specificity
100 %
Genes
20 %

Alternate names

Myelofibrosis Is also known as ;agnogenic myeloid metaplasia; idiopathic myelofibrosis; myelofibrosis with myeloid metaplasia; osteomyelofibrosis.


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