Fetal Hemoglobin Quantitative Trait Locus 1; Hbfqtl1

Description

Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which encode the gamma isoforms of HbF, is normally suppressed shortly before birth and replaced by expression of the beta- (HBB ) or delta- (HBD ) chains, which form adult hemoglobin. Adults normally have less than 1% HbF, whereas heterozygotes for HPFH have 5 to 30% HbF. HPFH heterozygotes have essentially normal red cell indices and a rather homogeneous distribution of HbF among red cells, termed 'pancellular.' Homozygotes for HPFH can express HbF in up to 100% of red blood cells (Thein and Craig, 1998).Delta-beta thalassemia is a hemoglobin disorder characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis from the affected chromosome. Individuals with delta-beta thalassemia have hypochromic, microcytic anemia and increased HbF, which may mitigate the anemia depending on the level of HbF. Delta-beta thalassemia and some forms of HPFH result from deletions within the beta-globin gene cluster on chromosome 11p15; this has been referred to as 'deletional' HPFH. HPFH can also result from point mutations in the promoter regions of the gamma globulin genes HBG1 and HBG2; this has been referred to as 'non-deletional' HPFH (Ottolenghi et al., 1982; Forget, 1998).Forget (1998) noted that HPFH and delta-beta thalassemia are not clearly distinct disorders, but rather show partially overlapping features that may defy classification. Higher expression of HbF is often termed 'pancellular,' whereas lower expression of HbF is often termed 'heterocellular,' although these represent a spectrum.Approximately 10% of the population has HPFH manifest as modest elevations of HbF (1 to 4%) present in a subset of red cells (about 4.5%) termed F cells. This is also sometimes referred to as 'heterocellular' HPFH, and is considered to be a multifactorial trait influenced by multiple genetic loci (Thein and Craig, 1998).

Clinical Features

Phenotypes and symptoms related to Fetal Hemoglobin Quantitative Trait Locus 1; Hbfqtl1

  • Anemia
  • Nevus
  • Hemolytic anemia
  • Postural instability
  • Microcytic anemia
  • Abnormality of blood and blood-forming tissues
  • Abnormal hemoglobin
  • Decreased mean corpuscular volume
  • Persistence of hemoglobin F

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Fetal Hemoglobin Quantitative Trait Locus 1; Hbfqtl1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HBD Sequencing.

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

HBD
Specificity
100 %
Genes
25 %
Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations.

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

HBB, HBD
Specificity
100 %
Genes
50 %
Beta Globin (HBB) Deletion/Duplication.

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

HBB, HBG1, HBD, HBE1, HBG2
Specificity
80 %
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
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
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
100 %
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
100 %
Genes
100 %
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
100 %
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
5 %
Genes
50 %
HBD.

By Fulgent Genetics Fulgent Genetics in United States.

HBD
Specificity
100 %
Genes
25 %
Delta Beta Thalassemia , Deletions (MLPA) HBD Gene.

By Reference Laboratory Genetics in Spain.

HBD
Specificity
100 %
Genes
25 %
HBG1/2 coding region and promoter sequencing.

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

HBG1
Specificity
100 %
Genes
25 %
Hereditary Persistance of Fetal Hemoglobin - HBG1 and HBG2 Sequence Analysis of G-Gamma and A-Gamma Globin Genes.

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

HBG1, HBG2
Specificity
100 %
Genes
50 %
Hereditary Persistance of Fetal Hemoglobin - HBG1 and HBG2 Known Point Mutation Analysis.

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

HBG1, HBG2
Specificity
100 %
Genes
50 %
Gamma globin gene sequencing.

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

HBG1, HBG2
Specificity
100 %
Genes
50 %
Hereditary persistence of fetal hemoglobin.

By Centogene AG - the Rare Disease Company in Germany.

HBG2
Specificity
100 %
Genes
25 %
Cyanosis, transient neonatal.

By Centogene AG - the Rare Disease Company in Germany.

HBG2
Specificity
100 %
Genes
25 %
HBG2.

By Fulgent Genetics Fulgent Genetics in United States.

HBG2
Specificity
100 %
Genes
25 %
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
25 %
Sickle Cell Disease Mutation Analysis.

By Baylor Miraca Genetics Laboratories in United States.

HBB
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
GeneAware Basic Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, HBB, CFTR, DMD, SMN1, HBA1, HBA2
Specificity
15 %
Genes
25 %
GeneAware Basic Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

HBB, CFTR, SMN1, HBA1, HBA2
Specificity
20 %
Genes
25 %
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
8 %
Genes
25 %
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
7 %
Genes
25 %
Sickle cell anemia.

By Center for Human Genetics, Inc in United States.

HBB
Specificity
100 %
Genes
25 %
Sickle cell disease.

By Center for Human Genetics, Inc in United States.

HBB
Specificity
100 %
Genes
25 %
Hemoglobin C.

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

HBB
Specificity
100 %
Genes
25 %
Beta globin gene sequencing.

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

HBB
Specificity
100 %
Genes
25 %
Hemoglobin SC.

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

HBB
Specificity
100 %
Genes
25 %
Beta-thalassemia.

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

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia: HBB (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia: HBB (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia: HBB Prenatal Test (Full Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia: HBB Prenatal Test (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
25 %
HBB Deletion/Duplication Analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

HBB
Specificity
100 %
Genes
25 %
Hemoglobin SS-Beta Thalassemia.

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

HBB
Specificity
100 %
Genes
25 %
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
34 %
Genes
25 %
Beta Globin (HBB) Sequencing, Fetal.

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

HBB
Specificity
100 %
Genes
25 %
Beta Globin (HBB) Sequencing and Deletion/Duplication.

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

HBB
Specificity
100 %
Genes
25 %
Beta Globin (HBB) HbS, HbC, & HbE Mutations, Fetal.

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

HBB
Specificity
100 %
Genes
25 %
Beta Globin (HBB) Sequencing.

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

HBB
Specificity
100 %
Genes
25 %
Beta Globin (HBB) HbS, HbC, & HbE Mutations.

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

HBB
Specificity
100 %
Genes
25 %
Hemoglobin Evaluation Reflexive Cascade.

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

HBB, HBA1, HBA2
Specificity
34 %
Genes
25 %
Sickle Cell Anemia.

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

HBB
Specificity
100 %
Genes
25 %
HBB. Complete sequencing.

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

HBB
Specificity
100 %
Genes
25 %
HBB. Complete sequencing.

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

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia - HBB Deletion/Duplication Analysis.

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

HBB
Specificity
100 %
Genes
25 %
Sickle Cell Anemia - HBB Sequence Analysis.

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

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia - HBB Sequence Analysis.

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

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia - HBB Sequence Analysis.

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

HBB
Specificity
100 %
Genes
25 %
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
25 %
Sickle Cell Hemoglobin.

By PerkinElmer Genetics, Inc. in United States.

HBB
Specificity
100 %
Genes
25 %
Sickle Cell Anemia (sequence analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
25 %
Delta-beta thalassemia (deletion/duplication analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
25 %
Drepanocitosis (mutation HbS, c.20A>T on HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
25 %
Beta-thalassemia (sequence analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
25 %
Delta-beta-thalassemia (Punjab mutation, c.364G>C on HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
25 %
Hemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes).

By CGC Genetics in Portugal.

HBB, HBA1, HBA2
Specificity
34 %
Genes
25 %
Sickle cell anemia (deletion/duplication analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
25 %
Sickle cell anemia (deletion/duplication analysis of HBB gene).

By CGC Genetics in Portugal.

HBB
Specificity
100 %
Genes
25 %
beta thalasemia.

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

HBB
Specificity
100 %
Genes
25 %
Sickle cell.

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

HBB
Specificity
100 %
Genes
25 %
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
25 %
Beta-Thalassemia and Hemoglobinopathy via HBB Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia.

By MGZ Medical Genetics Center in Germany.

HBB
Specificity
100 %
Genes
25 %
Hemoglobin S Beta-Thalassemia.

By MGZ Medical Genetics Center in Germany.

HBB
Specificity
100 %
Genes
25 %
Hemoglobin SC.

By Bioscientia GmbH Center for Human Genetics in Germany.

HBB
Specificity
100 %
Genes
25 %
Hemoglobin SS.

By Bioscientia GmbH Center for Human Genetics in Germany.

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia.

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

HBB
Specificity
100 %
Genes
25 %
Beta-thalassemia, HBB.

By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic.

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia.

By GeneTech ATS GeneTech Private Limited in India.

HBB
Specificity
100 %
Genes
25 %
Sickle Cell Anemia.

By GeneTech ATS GeneTech Private Limited in India.

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia Full Gene Sequencing.

By GeneTech ATS GeneTech Private Limited in India.

HBB
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Sickle cell anemia.

By Centogene AG - the Rare Disease Company in Germany.

HBB
Specificity
100 %
Genes
25 %
Delta-beta thalassemia.

By Centogene AG - the Rare Disease Company in Germany.

HBB
Specificity
100 %
Genes
25 %
beta Thalassemia.

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

HBB
Specificity
100 %
Genes
25 %
alpha Thalassemia.

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

HBB, HBA1, HBA2
Specificity
34 %
Genes
25 %
Beta-Thalassemia.

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

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia.

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

HBB
Specificity
100 %
Genes
25 %
Hemoglobin-E Disease.

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

HBB
Specificity
100 %
Genes
25 %
Sickle Cell Anemia.

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

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia, HBB Sequencing.

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

HBB
Specificity
100 %
Genes
25 %
Test for Beta-Thalassemia.

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

HBB
Specificity
100 %
Genes
25 %
Hemoglobin S Beta-Thalassemia (HbS, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia (HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
25 %
Hemoglobin E (HbE, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
25 %
Sickle cell disease (Hemoglobin SS, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
25 %
Hemoglobin SO-Arab disease (HbS/HbO Arab, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
25 %
Hemoglobin SD disease (HbS/HbD, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
25 %
Hemoglobin SC disease (HbS/HbC, HBB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia.

By Asper Biogene Asper Biogene LLC in Estonia.

HBB
Specificity
100 %
Genes
25 %
beta-Thalassemia, HBB sequencing.

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

HBB
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Beta globin gene sequencing.

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

HBB
Specificity
100 %
Genes
25 %
Cellulose Acetate Electrophoresis.

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

HBB, HBA1, HBA2
Specificity
34 %
Genes
25 %
Citrate Agar Electrophoresis.

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

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia (HBB).

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

HBB
Specificity
100 %
Genes
25 %
Hemoglobin SC Mutation Analysis.

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

HBB
Specificity
100 %
Genes
25 %
Beta-Thalassemia (sickle cell anaemia).

By Praxis fuer Humangenetik Wien in Austria.

HBB
Specificity
100 %
Genes
25 %
Sickle cell anemia.

By Praxis fuer Humangenetik Wien in Austria.

HBB
Specificity
100 %
Genes
25 %
Sickle Cell Disease.

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

HBB
Specificity
100 %
Genes
25 %
HBB Gene Sequencing.

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

HBB
Specificity
100 %
Genes
25 %
HBB.

By Division Human Genetics Medical University Innsbruck in Austria.

HBB
Specificity
100 %
Genes
25 %
Beta-thalassaemia gene mapping.

By Molecular Diagnosis Centre National University Hospital in Singapore.

HBB
Specificity
100 %
Genes
25 %
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
1 %
Genes
25 %
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
25 %
Beta-Thalassemia (sickle cell anaemia).

By MedGene in Slovakia.

HBB
Specificity
100 %
Genes
25 %
Sickle cell anemia.

By MedGene in Slovakia.

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia: HBB gene deletions-duplications analysis (MLPA).

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

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia: HBB gene sequence analysis.

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

HBB
Specificity
100 %
Genes
25 %
Sickle cell anemia: HBB gene mutation analysis (Glu6Val).

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

HBB
Specificity
100 %
Genes
25 %
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
1 %
Genes
25 %
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
25 %
Sickle Cell Anemia Mutation Analysis.

By Integrated Genetics Westborough Integrated Genetics in United States.

HBB
Specificity
100 %
Genes
25 %
Beta-Hemoglobinopathy (HBB).

By Integrated Genetics Westborough Integrated Genetics in United States.

HBB
Specificity
100 %
Genes
25 %
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
25 %
HBB.

By Fulgent Genetics Fulgent Genetics in United States.

HBB
Specificity
100 %
Genes
25 %
Beta Globin Gene Dosage Analysis.

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

HBB
Specificity
100 %
Genes
25 %
Beta Globin Gene Dosage Analysis (NY).

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

HBB
Specificity
100 %
Genes
25 %
Beta-Globin Complete.

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

HBB
Specificity
100 %
Genes
25 %
Beta-Globin Complete (NY).

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

HBB
Specificity
100 %
Genes
25 %
Sickle Cell Anemia, DNA Probe Analysis, Fetus.

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

HBB
Specificity
100 %
Genes
25 %
Sickle Cell Anemia, DNA Probe Analysis, Fetus.

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

HBB
Specificity
100 %
Genes
25 %
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
25 %
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
2 %
Genes
25 %
Beta Thalassemia and Hb S mutations.

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

HBB
Specificity
100 %
Genes
25 %
Thalassemias, beta-.

By Bioarray in Spain.

HBB
Specificity
100 %
Genes
25 %
Sickle cell anemia.

By Bioarray in Spain.

HBB
Specificity
100 %
Genes
25 %
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
25 %
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
2 %
Genes
25 %
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
25 %
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
25 %
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
2 %
Genes
25 %
Mutation analysis for beta Thalassemia.

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

HBB
Specificity
100 %
Genes
25 %
Mutation analysis of Sickle cell anemia.

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

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia and Hb S mutations.

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

HBB
Specificity
100 %
Genes
25 %
SICKLE CELL ANEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

HBB
Specificity
100 %
Genes
25 %
BETA-THALASSEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia, Sequencing HBB Gene.

By Reference Laboratory Genetics in Spain.

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia, Frequent Mutations HBB Gene.

By Reference Laboratory Genetics in Spain.

HBB
Specificity
100 %
Genes
25 %
Delta Beta Thalassemia , Deletions (MLPA) HBB Gene.

By Reference Laboratory Genetics in Spain.

HBB
Specificity
100 %
Genes
25 %
Beta Thalassemia.

By Labor Dr. Wisplinghoff in Germany.

HBB
Specificity
100 %
Genes
25 %
Sickle cell anemia.

By Labor Dr. Wisplinghoff in Germany.

HBB
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
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
25 %
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
2 %
Genes
25 %
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
8 %
Genes
25 %
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
5 %
Genes
25 %
Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB, HBA1, HBA2
Specificity
34 %
Genes
25 %
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
2 %
Genes
25 %
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
1 %
Genes
25 %
Beta thalassemia major: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Sickle hemoglobin C disease: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Sickle cell disease variants: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb E/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Sickle hemoglobin D disease: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Sickle cell anemia (S/S): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hereditary persistence of fetal hemoglobin: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb variants: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb Variant/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb S/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb EE: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
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
25 %
Hb E/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb D/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb C/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb D/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb D disease (Hb DD): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb C/ Beta0 thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Sickle hemoglobin E disease: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb C disease (Hb CC): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb Variant/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %
Hb S/Beta+ thalassemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HBB
Specificity
100 %
Genes
25 %

Alternate names

Fetal Hemoglobin Quantitative Trait Locus 1; Hbfqtl1 Is also known as hemoglobin f, hereditary persistence of;hpfh, hereditary persistence of fetal hemoglobin, hb gene cluster-related;.



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