GATA1 gene related symptoms and diseases

All the information presented here about the GATA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GATA1 gene

Symptoms // Phenotype % Cases
Anemia Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Anisocytosis Uncommon - Between 30% and 50% cases
Transient myeloproliferative syndrome Uncommon - Between 30% and 50% cases
Poikilocytosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GATA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Neutropenia
  • Rarely - Less than 30% cases

  • Macrocytic anemia
  • Petechiae
  • Bruising susceptibility
  • Depressed nasal ridge
  • Short nose
  • Neoplasm
  • Thick lower lip vermilion

And 186 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GATA1 gene

Here you will find a list of rare diseases related to the GATA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TRANSIENT MYELOPROLIFERATIVE SYNDROME


Alternate names

TRANSIENT MYELOPROLIFERATIVE SYNDROME Is also known as transient myeloproliferative disease, transient abnormal myelopoiesis, tam, leukemia, transient, tmd, mst

Description

A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients, the myeloid proliferation undergoes spontaneous remission.

Most common symptoms of TRANSIENT MYELOPROLIFERATIVE SYNDROME

  • Leukocytosis
  • Transient myeloproliferative syndrome


More info about TRANSIENT MYELOPROLIFERATIVE SYNDROME

SOURCES: MESH ORPHANET OMIM

CONGENITAL ERYTHROPOIETIC PORPHYRIA


Alternate names

CONGENITAL ERYTHROPOIETIC PORPHYRIA Is also known as cep, gÜnther disease

Description

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.

Most common symptoms of CONGENITAL ERYTHROPOIETIC PORPHYRIA

  • Splenomegaly
  • Immunodeficiency
  • Thrombocytopenia
  • Osteopenia
  • Abnormality of the foot


More info about CONGENITAL ERYTHROPOIETIC PORPHYRIA

SOURCES: ORPHANET

DOWN SYNDROME


Alternate names

DOWN SYNDROME Is also known as trisomy 21

Description

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

Most common symptoms of DOWN SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


More info about DOWN SYNDROME

SOURCES: ORPHANET MESH OMIM

BLACKFAN-DIAMOND ANEMIA


Alternate names

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type, congenital pure red cell aplasia, aase-smith syndrome ii, congenital prca, aase-smith ii syndrome, aase syndrome

Description

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

Most common symptoms of BLACKFAN-DIAMOND ANEMIA

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


More info about BLACKFAN-DIAMOND ANEMIA

SOURCES: ORPHANET OMIM

BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME


Alternate names

BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME Is also known as xltt, thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

Description

Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.

Most common symptoms of BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Leukemia
  • Bruising susceptibility


More info about BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME

SOURCES: MESH ORPHANET OMIM

X-LINKED DYSERYTHROPOIETIC ANEMIA WITH ABNORMAL PLATELETS AND NEUTROPENIA


Description

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.

Most common symptoms of X-LINKED DYSERYTHROPOIETIC ANEMIA WITH ABNORMAL PLATELETS AND NEUTROPENIA

  • Anemia
  • Thrombocytopenia
  • Pneumonia
  • Neutropenia
  • Macrocytic anemia


More info about X-LINKED DYSERYTHROPOIETIC ANEMIA WITH ABNORMAL PLATELETS AND NEUTROPENIA

SOURCES: ORPHANET OMIM

THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA


Description

XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by Millikan et al., 2011).

Most common symptoms of THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA

  • Cryptorchidism
  • Anemia
  • Thrombocytopenia
  • Bruising susceptibility
  • Epistaxis


More info about THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA

SOURCES: OMIM

THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA


Alternate names

THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA Is also known as congenital dyserythropoietic anemia with thombocytopenia, x-linked congenital dyserythropoietic anemia with thrombocytopenia, xdat

Description

Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.

Most common symptoms of THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA

  • Cryptorchidism
  • Anisocytosis
  • Anemia of inadequate production
  • Poikilocytosis
  • Macrothrombocytopenia


More info about THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA

SOURCES: ORPHANET

ACUTE MEGAKARYOBLASTIC LEUKEMIA IN DOWN SYNDROME


Alternate names

ACUTE MEGAKARYOBLASTIC LEUKEMIA IN DOWN SYNDROME Is also known as ds-amkl


More info about ACUTE MEGAKARYOBLASTIC LEUKEMIA IN DOWN SYNDROME

SOURCES: ORPHANET


Potential gene panels for GATA1 gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel

Bone Marrow Failure Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7

More info about this panel

Platelet Disorders Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3

More info about this panel

MyeloidDx by NGS Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

MyeloidDx by NGS Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24

More info about this panel

Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8

More info about this panel

Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 ALAS2 GATA1 KLF1 KIF23

More info about this panel

Inherited Neutropenia panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia panel by next-generation sequencing (NGS) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3

More info about this panel

Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Inherited Neutropenia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia Deletion/Duplication Panel that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 LYST VPS13B CSF3R G6PC3 CXCR4

More info about this panel

Diamond-Blackfan anemia panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Diamond-Blackfan anemia panel by next-generation sequencing (NGS) that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

More info about this panel

GATA1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the GATA1 gene.

More info about this panel

GATA1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the GATA1 gene.

More info about this panel

Congenital Dyserythropoietic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Dyserythropoietic Anemia Deletion/Duplication Panel that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 GATA1 KLF1 KIF23

More info about this panel

Diamond-Blackfan Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Diamond-Blackfan Anemia Deletion/Duplication Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 GATA1

More info about this panel

Hemolytic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2

More info about this panel

Inherited Bone Marrow Failure Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Diamond-Blackfan Anemia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Diamond-Blackfan Anemia Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

GATA1-related cytopenia Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the GATA1 gene.

More info about this panel

GATA1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GATA1 gene.

More info about this panel

Anemia with or without neutropenia and/or platelet abnormalities (XLANP, sequence analysis of GATA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GATA1 gene.

More info about this panel

Blackfan-Diamond anemia (sequence analysis of GATA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GATA1 gene.

More info about this panel

Hereditary neutropenia (NGS panel for 22 genes) Panel

Portugal.

By CGC Genetics Hereditary neutropenia (NGS panel for 22 genes) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3

More info about this panel

Diamond-Blackfan anemia (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19

More info about this panel

Diamond-Blackfan anemia (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19

More info about this panel

Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Thrombocytopenia and Related Hematopoietic Disorders via GATA1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GATA1 gene.

More info about this panel

Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Severe Congenital Neutropenia Sequencing Panel with CNV Detection that also includes the following genes: SMARCD2 TAZ WAS WIPF1 WDR1 VPS45 HAX1 SBDS LYST VPS13B

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS

More info about this panel

Diamond-Blackfan anemia NGS panel Panel

United States.

By Connective Tissue Gene Tests Diamond-Blackfan anemia NGS panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19

More info about this panel

Diamond-Blackfan anemia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Diamond-Blackfan anemia Deletion / Duplication panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19

More info about this panel

Diamond-Blackfan anemia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Diamond-Blackfan anemia Comprehensive panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Myeloid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Myeloid Tumor Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Thrombocytopenia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Thrombocytopenia panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 ITGA2B ITGB3

More info about this panel

Leukemia megakaryoblastic of Down syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GATA1 gene.

More info about this panel

Anemia X linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GATA1 gene.

More info about this panel

Leukemia, megakaryoblastic, with or without Down syndrome, somatic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GATA1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Thrombocytopenia X linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GATA1 gene.

More info about this panel

Thrombocytopenia with beta thalassemia X-linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GATA1 gene.

More info about this panel

Single gene testing GATA1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GATA1 gene.

More info about this panel

Bone marrow failure syndromes with Leukemia Panel Panel

Germany.

By CeGaT GmbH Bone marrow failure syndromes with Leukemia Panel that also includes the following genes: RUNX1 CASP10 CEBPA GATA1 NBN

More info about this panel

Thrombocytopenia Panel Panel

Germany.

By CeGaT GmbH Thrombocytopenia Panel that also includes the following genes: THBD ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 AP3B1 ITGA2B ITGB3

More info about this panel

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel

Beta-Thalassemia Panel

Spain.

By Medical Genetics Unit Sistemas Genómicos

This panel specifically test the GATA1 gene.

More info about this panel

Thrombocytopenia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Thrombocytopenia that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

NGS Panel for Congenital Dyserythropoietic Anemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital Dyserythropoietic Anemia that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1 KIF23

More info about this panel

NGS Panel for Diamond-Blackfan Anemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Diamond-Blackfan Anemia that also includes the following genes: RPL11 RPL15 RPL19 RPL26 RPL27 RPL31 RPL35A RPL5 RPL9 RPS10

More info about this panel

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel

Inherited Thrombocytopenia Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti Inherited Thrombocytopenia Panel that also includes the following genes: WAS GATA1 MYH9

More info about this panel

Invitae GATA1-Related X-Linked Cytopenia Test Panel

United States.

By Invitae

This panel specifically test the GATA1 gene.

More info about this panel

Invitae Diamond-Blackfan Anemia Panel Panel

United States.

By Invitae Invitae Diamond-Blackfan Anemia Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 GATA1

More info about this panel

Invitae Bone Marrow Failure Syndromes Panel Panel

United States.

By Invitae Invitae Bone Marrow Failure Syndromes Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1

More info about this panel

Transient myeloproliferative disorder: GATA1 gene sequence analysis (exon 2) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GATA1 gene.

More info about this panel

Thrombocytopenia, X-linked, with or without dyserythropoietic anemia: GATA1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GATA1 gene.

More info about this panel

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59

More info about this panel

Diamond-Blackfan Anemia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Diamond-Blackfan Anemia NGS Panel that also includes the following genes: RPL11 RPL19 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 MPL MYH9

More info about this panel

GATA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GATA1 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

Onco microarray for MDS/AML Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1

More info about this panel

Thrombocytopenia Panel Panel

Finland.

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Diamond-Blackfan Anemia Panel Panel

Finland.

By Blueprint Genetics Diamond-Blackfan Anemia Panel that also includes the following genes: RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29 RPS7

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Focus::Myeloid™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Focus::Myeloid™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Focus::MPN™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MPN™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 CALR CBL SETBP1 ASXL1 CEBPA

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Focus::AML™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::AML™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CALR

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Thrombocytopenia with beta-thalassemia, X-linked Panel

Spain.

By Bioarray

This panel specifically test the GATA1 gene.

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Hematopoietic Disorders Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1

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FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

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Inherited Bone Marrow Failure Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

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NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

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Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

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BLACKFAN-DIAMOND ANEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL BLACKFAN-DIAMOND ANEMIA that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7

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CONGENITAL DYSERYTHROPOIRTIC ANEMIA WITH THROMBOCYTOPENIA (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GATA1 gene.

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BLACKFAN-DIAMOND ANEMIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BLACKFAN-DIAMOND ANEMIA: NGS PANEL that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19

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CONGENITAL DYSERYTHROPOIETIC ANEMIA, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL DYSERYTHROPOIETIC ANEMIA, NGS PANEL that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1 KIF23

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Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

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Transient Myeloproliferative Disorder , Sequencing GATA1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GATA1 gene.

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Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel

Spain.

By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

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Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: RUNX1 SRC WAS ADAMTS13 CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

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Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: SEC23B CDAN1 GATA1 KLF1

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Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: TAZ WAS WIPF1 HAX1 SBDS LYST VPS13B CSF3R G6PC3 CXCR4

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152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

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Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

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Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

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