Heinz Body Anemias

Description

Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. [HPO:probinson]

Clinical Features

Phenotypes and symptoms related to Heinz Body Anemias

  • Abnormality of metabolism/homeostasis
  • Nonspherocytic hemolytic anemia
  • Heinz body anemia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Heinz Body Anemias Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
Sickle Cell Disease Mutation Analysis.

By Baylor Miraca Genetics Laboratories in United States.

HBB
Specificity
100 %
Genes
50 %
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
2 %
Genes
100 %
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
2 %
Genes
100 %
GeneAware Basic Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, HBB, CFTR, DMD, SMN1, HBA1, HBA2
Specificity
29 %
Genes
100 %
GeneAware Basic Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

HBB, CFTR, SMN1, HBA1, HBA2
Specificity
40 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1
Specificity
16 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DMD, SMN1, HBA1, HBA2, MCOLN1
Specificity
14 %
Genes
100 %
Sickle cell anemia.

By Center for Human Genetics, Inc in United States.

HBB
Specificity
100 %
Genes
50 %
Sickle cell disease.

By Center for Human Genetics, Inc in United States.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin C.

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

HBB
Specificity
100 %
Genes
50 %
Beta globin gene sequencing.

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

HBB
Specificity
100 %
Genes
50 %
Hemoglobin SC.

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

HBB
Specificity
100 %
Genes
50 %
Beta-thalassemia.

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

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia: HBB (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia: HBB (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia: HBB Prenatal Test (Full Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia: HBB Prenatal Test (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
50 %
HBB Deletion/Duplication Analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin SS-Beta Thalassemia.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

HBB
Specificity
100 %
Genes
50 %
HBA1/HBA2 and HBB Mutation Analysis.

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

HBB, HBA1, HBA2
Specificity
67 %
Genes
100 %
Beta Globin (HBB) Sequencing, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBB, HBD
Specificity
50 %
Genes
50 %
Beta Globin (HBB) Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBB
Specificity
100 %
Genes
50 %
Beta Globin (HBB) HbS, HbC, & HbE Mutations, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBB
Specificity
100 %
Genes
50 %
Beta Globin (HBB) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBB
Specificity
100 %
Genes
50 %
Beta Globin (HBB) HbS, HbC, & HbE Mutations.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin Evaluation Reflexive Cascade.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBB, HBA1, HBA2
Specificity
67 %
Genes
100 %
Beta Globin (HBB) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBB, HBG1, HBD, HBE1, HBG2
Specificity
20 %
Genes
50 %
Sickle Cell Anemia.

By GENE Núcleo de Genética Médica de Minas Gerais in Brazil.

HBB
Specificity
100 %
Genes
50 %
HBB. Complete sequencing.

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

HBB
Specificity
100 %
Genes
50 %
HBB. Complete sequencing.

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

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia - HBB Deletion/Duplication Analysis.

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

HBB
Specificity
100 %
Genes
50 %
Sickle Cell Anemia - HBB Sequence Analysis.

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

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia - HBB Sequence Analysis.

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

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia - HBB Sequence Analysis.

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

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia - HBB Known Point Mutation Analysis.

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

HBB
Specificity
100 %
Genes
50 %
Sickle Cell Hemoglobin.

By PerkinElmer Genetics, Inc. in United States.

HBB
Specificity
100 %
Genes
50 %
Sickle Cell Anemia (sequence analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
50 %
Delta-beta thalassemia (deletion/duplication analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
50 %
Drepanocitosis (mutation HbS, c.20A>T on HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
50 %
Beta-thalassemia (sequence analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
50 %
Delta-beta-thalassemia (Punjab mutation, c.364G>C on HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
50 %
Hemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes).

By CGC Genetics in Portugal.

HBB, HBA1, HBA2
Specificity
67 %
Genes
100 %
Sickle cell anemia (deletion/duplication analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
50 %
Sickle cell anemia (deletion/duplication analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
50 %
beta thalasemia.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

HBB
Specificity
100 %
Genes
50 %
Sickle cell.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

HBB
Specificity
100 %
Genes
50 %
Hb sICKLE, Hb D Punjab, Hb D Iran.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia and Hemoglobinopathy via HBB Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia.

By MGZ Medical Genetics Center in Germany.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin S Beta-Thalassemia.

By MGZ Medical Genetics Center in Germany.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin SC.

By Bioscientia GmbH Center for Human Genetics in Germany.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin SS.

By Bioscientia GmbH Center for Human Genetics in Germany.

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

HBB
Specificity
100 %
Genes
50 %
Beta-thalassemia, HBB.

By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic.

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia.

By GeneTech ATS GeneTech Private Limited in India.

HBB
Specificity
100 %
Genes
50 %
Sickle Cell Anemia.

By GeneTech ATS GeneTech Private Limited in India.

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia Full Gene Sequencing.

By GeneTech ATS GeneTech Private Limited in India.

HBB
Specificity
100 %
Genes
50 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
Sickle cell anemia.

By Centogene AG - the Rare Disease Company in Germany.

HBB
Specificity
100 %
Genes
50 %
Delta-beta thalassemia.

By Centogene AG - the Rare Disease Company in Germany.

HBB
Specificity
100 %
Genes
50 %
beta Thalassemia.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

HBB
Specificity
100 %
Genes
50 %
alpha Thalassemia.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

HBB, HBA1, HBA2
Specificity
67 %
Genes
100 %
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
100 %
Beta-Thalassemia.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin-E Disease.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

HBB
Specificity
100 %
Genes
50 %
Sickle Cell Anemia.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia, HBB Sequencing.

By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS in Turkey.

HBB
Specificity
100 %
Genes
50 %
Test for Beta-Thalassemia.

By Genetiks Genetic Diagnosis and Research Center Genetic Diagnosis and Research Center in Turkey.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin S Beta-Thalassemia (HbS, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia (HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin E (HbE, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
50 %
Sickle cell disease (Hemoglobin SS, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin SO-Arab disease (HbS/HbO Arab, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin SD disease (HbS/HbD, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin SC disease (HbS/HbC, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia.

By Asper Biogene Asper Biogene LLC in Estonia.

HBB
Specificity
100 %
Genes
50 %
beta-Thalassemia, HBB sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

HBB
Specificity
100 %
Genes
50 %
Allele-specific PCR for Hb E.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBB
Specificity
100 %
Genes
50 %
Allele-specific PCR for Hb S.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBB
Specificity
100 %
Genes
50 %
Beta globin gene sequencing.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBB
Specificity
100 %
Genes
50 %
Capillary Zone Electrophoresis (Sebia).

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBB, HBA1, HBA2, HBD
Specificity
50 %
Genes
100 %
Cellulose Acetate Electrophoresis.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBB, HBA1, HBA2
Specificity
67 %
Genes
100 %
Citrate Agar Electrophoresis.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBB
Specificity
100 %
Genes
50 %
Multiplex Gap-PCR for beta thalassemia deletions.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBB, HBD
Specificity
50 %
Genes
50 %
MLPA (Multiplex Ligation-Dependent Probe Amplification) for β-globin gene cluster.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBB, HBG1, HBD, HBG2
Specificity
25 %
Genes
50 %
Multiplex Gap PCR for HPFH and Hb Lepore (Hollandia, Washington- Boston, Baltimore).

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBB, HBG1, HBD, HBG2
Specificity
25 %
Genes
50 %
Beta-Thalassemia (HBB).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin SC Mutation Analysis.

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

HBB
Specificity
100 %
Genes
50 %
Beta-Thalassemia (sickle cell anaemia).

By Praxis fuer Humangenetik Wien in Austria.

HBB
Specificity
100 %
Genes
50 %
Sickle cell anemia.

By Praxis fuer Humangenetik Wien in Austria.

HBB
Specificity
100 %
Genes
50 %
Sickle Cell Disease.

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

HBB
Specificity
100 %
Genes
50 %
HBB Gene Sequencing.

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

HBB
Specificity
100 %
Genes
50 %
HBB.

By Division Human Genetics Medical University Innsbruck in Austria.

HBB
Specificity
100 %
Genes
50 %
Beta-thalassaemia gene mapping.

By Molecular Diagnosis Centre National University Hospital in Singapore.

HBB
Specificity
100 %
Genes
50 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
2 %
Genes
100 %
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
50 %
Beta-Thalassemia (sickle cell anaemia).

By MedGene in Slovakia.

HBB
Specificity
100 %
Genes
50 %
Sickle cell anemia.

By MedGene in Slovakia.

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia: HBB gene deletions-duplications analysis (MLPA).

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

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia: HBB gene sequence analysis.

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

HBB
Specificity
100 %
Genes
50 %
Sickle cell anemia: HBB gene mutation analysis (Glu6Val).

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

HBB
Specificity
100 %
Genes
50 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
2 %
Genes
100 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Inheritest NGS, Society Guided Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1
Specificity
9 %
Genes
50 %
Sickle Cell Anemia Mutation Analysis.

By Integrated Genetics Westborough Integrated Genetics in United States.

HBB
Specificity
100 %
Genes
50 %
Beta-Hemoglobinopathy (HBB).

By Integrated Genetics Westborough Integrated Genetics in United States.

HBB
Specificity
100 %
Genes
50 %
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
50 %
HBB.

By Fulgent Genetics Fulgent Genetics in United States.

HBB
Specificity
100 %
Genes
50 %
Beta Globin Gene Dosage Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBB
Specificity
100 %
Genes
50 %
Beta Globin Gene Dosage Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBB
Specificity
100 %
Genes
50 %
Beta-Globin Complete.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBB
Specificity
100 %
Genes
50 %
Beta-Globin Complete (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBB
Specificity
100 %
Genes
50 %
Sickle Cell Anemia, DNA Probe Analysis, Fetus.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBB
Specificity
100 %
Genes
50 %
Sickle Cell Anemia, DNA Probe Analysis, Fetus.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBB
Specificity
100 %
Genes
50 %
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
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
3 %
Genes
100 %
Beta Thalassemia and Hb S mutations.

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

HBB
Specificity
100 %
Genes
50 %
Thalassemias, beta-.

By Bioarray in Spain.

HBB
Specificity
100 %
Genes
50 %
Sickle cell anemia.

By Bioarray in Spain.

HBB
Specificity
100 %
Genes
50 %
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
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
3 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
3 %
Genes
100 %
Mutation analysis for beta Thalassemia.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

HBB
Specificity
100 %
Genes
50 %
Mutation analysis of Sickle cell anemia.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia and Hb S mutations.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.

HBB
Specificity
100 %
Genes
50 %
SICKLE CELL ANEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

HBB
Specificity
100 %
Genes
50 %
BETA-THALASSEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia, Sequencing HBB Gene.

By Reference Laboratory Genetics in Spain.

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia, Frequent Mutations HBB Gene.

By Reference Laboratory Genetics in Spain.

HBB
Specificity
100 %
Genes
50 %
Delta Beta Thalassemia , Deletions (MLPA) HBB Gene.

By Reference Laboratory Genetics in Spain.

HBB
Specificity
100 %
Genes
50 %
Beta Thalassemia.

By Labor Dr. Wisplinghoff in Germany.

HBB
Specificity
100 %
Genes
50 %
Sickle cell anemia.

By Labor Dr. Wisplinghoff in Germany.

HBB
Specificity
100 %
Genes
50 %
Beta-thalassemia gene sequencing.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin D disease: Cd121G>C mutation study.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

HBB
Specificity
100 %
Genes
50 %
Hemoglobin E disease: Cd26(T-C) mutation study.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

HBB
Specificity
100 %
Genes
50 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
3 %
Genes
100 %
planTrue ACOG & ACMG Screen.

By True Health Diagnostics in United States.

HBB, SMPD1, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1
Specificity
15 %
Genes
100 %
planTrue Standard.

By True Health Diagnostics in United States.

BCKDHB, HBB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, FKTN, HBA2, NEB , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB, HBA1, HBA2
Specificity
67 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
3 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
2 %
Genes
100 %
Beta thalassemia major: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Sickle hemoglobin C disease: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Sickle cell disease variants: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb E/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Sickle hemoglobin D disease: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Sickle cell anemia (S/S): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hereditary persistence of fetal hemoglobin: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb variants: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb Variant/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb S/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb EE: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
Hb E/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb D/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb C/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb D/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb D disease (Hb DD): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb C/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Sickle hemoglobin E disease: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb C disease (Hb CC): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb Variant/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Hb S/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
50 %
Alpha Globin Gene Sequencing.

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

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia.

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

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia deletions.

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

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-Thalassemia, DNA Analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Globin (HBA1 and HBA2) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia (HBA1 and HBA2) 7 Deletions.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Globin (HBA1 and HBA2) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
HBA1, HBA2. MLPA testing.

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

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha thalassemia.

By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia - HBA Deletion/Duplication Analysis.

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

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia - HBA Sequence Analysis.

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

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia - HBA Known Point Mutation Analysis.

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

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-thalassemia (deletion/duplication analysis of HBA1 and HBA2 genes).

By CGC Genetics in Portugal.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-thalassemia (sequence analysis of HBA1 and HBA2 genes).

By CGC Genetics in Portugal.

HBA1, HBA2
Specificity
50 %
Genes
50 %
alpha thalassemai.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia Deletion/Duplication and Constant Spring Panel.

By PreventionGenetics PreventionGenetics in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha thalassemia HBA1-HBA2.

By MGZ Medical Genetics Center in Germany.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Thalassemia, alpha.

By Centogene AG - the Rare Disease Company in Germany.

HBA2
Specificity
100 %
Genes
50 %
Alpha-Thalassemia (HBA1/HBA2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-Thalassemia.

By Asper Biogene Asper Biogene LLC in Estonia.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha globin gene sequencing.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Multiplex Gap PCR for alpha thalassemia deletions.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Globin gene Triplication.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-Thalassemia (HBA).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-thalassaemia gene mapping.

By Molecular Diagnosis Centre National University Hospital in Singapore.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alfa Thalassemia: Deletion analysis (a3.7, a4.2, a20.5, aSEA, aFIL and aMED).

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

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alfa Thalassemia: HBA2 gene sequence analysis.

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

HBA2
Specificity
100 %
Genes
50 %
Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-Globin Common Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-Globin Common Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-Globin Gene Deletion or Duplication (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-Globin Gene Sequencing.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-Globin Gene Deletion or Duplication.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha-Globin Gene Sequencing (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HBA1, HBA2
Specificity
50 %
Genes
50 %
ALPHA-THALASSEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha Thalassemia, Sequencing HBA2 Gene.

By Reference Laboratory Genetics in Spain.

HBA2
Specificity
100 %
Genes
50 %
Alpha Thalassemia.

By Labor Dr. Wisplinghoff in Germany.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Alpha thalassemia: Full gene panel sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Hb H (3 gene deletion): Full gene panel sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Hb Barts: Full gene panel sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBA1, HBA2
Specificity
50 %
Genes
50 %
Hb H/Constant Spring disease : Full gene panel sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBA1, HBA2
Specificity
50 %
Genes
50 %


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