HBA2 gene related symptoms and diseases

All the information presented here about the HBA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HBA2 gene

Symptoms // Phenotype % Cases
Anemia Common - Between 50% and 80% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Reduced alpha/beta synthesis ratio Uncommon - Between 30% and 50% cases
Jaundice Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HBA2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hepatomegaly
  • Rarely - Less than 30% cases

  • Abnormal hemoglobin
  • Pallor
  • Fatigue
  • Hydrops fetalis
  • Microcytic anemia
  • Hemoglobin H
  • Hypochromic microcytic anemia

And 92 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HBA2 gene

Here you will find a list of rare diseases related to the HBA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alternate names

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr, atr syndrome, deletion type, alpha thalassemia-mental retardation syndrome, mental retardation with hemoglobin h, alpha thalassemia-intellectual disability syndrome, deletion type, alpha-thalassemia/mental retardation syndrome, deletion-type, atr, deletio

Description

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

Most common symptoms of ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

SOURCES: ORPHANET MESH OMIM

HEMOGLOBIN H DISEASE


Alternate names

HEMOGLOBIN H DISEASE Is also known as hbh disease, alpha-thalassemia intermedia

Description

Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia.


More info about HEMOGLOBIN H DISEASE

SOURCES: ORPHANET

HEMOGLOBIN H DISEASE; HBH


Alternate names

HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type, hemoglobin h disease, deletional

Description

Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.

Most common symptoms of HEMOGLOBIN H DISEASE; HBH

  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


More info about HEMOGLOBIN H DISEASE; HBH

SOURCES: OMIM ORPHANET

ALPHA-THALASSEMIA


Most common symptoms of ALPHA-THALASSEMIA

  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly
  • Jaundice


More info about ALPHA-THALASSEMIA

SOURCES: OMIM

HEINZ BODY ANEMIA


Description

This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability.Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; {208530}).

Most common symptoms of HEINZ BODY ANEMIA

  • Anemia
  • Fever
  • Abnormality of metabolism/homeostasis
  • Jaundice
  • Hemolytic anemia


More info about HEINZ BODY ANEMIA

SOURCES: MESH ORPHANET OMIM

HEMOGLOBIN M DISEASE


Alternate names

HEMOGLOBIN M DISEASE Is also known as m hemoglobinopathy

Description

Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemolobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit (OMIM ), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993).

Most common symptoms of HEMOGLOBIN M DISEASE

  • Cyanosis
  • Methemoglobinemia


More info about HEMOGLOBIN M DISEASE

SOURCES: MESH ORPHANET OMIM

ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7


Alternate names

ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 Is also known as polycythemia, alpha-globin type, erythrocytosis, alpha-globin type

Description

Familial erythrocytosis-7 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant is usually milder than that caused by a beta chain variant (see {617980}).

Most common symptoms of ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7

  • Polycythemia
  • Angina pectoris


More info about ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7

SOURCES: OMIM

HB BART'S HYDROPS FETALIS


Alternate names

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major, alpha-thalassemia hydrops fetalis, homozygous alpha0-thalassemia, hemoglobin bart's hydrops fetalis

Description

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

Most common symptoms of HB BART'S HYDROPS FETALIS

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


More info about HB BART'S HYDROPS FETALIS

SOURCES: ORPHANET


Potential gene panels for HBA2 gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Basic Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Basic Panel Version 2 (Female) that also includes the following genes: SMN1 CFTR DMD FMR1 HBA1 HBA2 HBB

More info about this panel

GeneAware Basic Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Basic Panel Version 2 (Male) that also includes the following genes: SMN1 CFTR HBA1 HBA2 HBB

More info about this panel

GeneAware ACMG/ACOG Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Male) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB

More info about this panel

GeneAware ACMG/ACOG Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Female) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR DMD FANCC FMR1 GBA HBA1

More info about this panel

Alpha Globin Gene Sequencing Panel

United States.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco Alpha Globin Gene Sequencing that also includes the following genes: HBA1 HBA2

More info about this panel

Alpha Thalassemia Panel

United States.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco Alpha Thalassemia that also includes the following genes: HBA1 HBA2

More info about this panel

Alpha Thalassemia deletions Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories Alpha Thalassemia deletions that also includes the following genes: HBA1 HBA2

More info about this panel

Alpha-Thalassemia, DNA Analysis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Alpha-Thalassemia, DNA Analysis that also includes the following genes: HBA1 HBA2

More info about this panel

HBA1/HBA2 and HBB Mutation Analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center HBA1/HBA2 and HBB Mutation Analysis that also includes the following genes: HBA1 HBA2 HBB

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Erythrocytosis 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 Erythrocytosis Panel by next-generation sequencing (NGS) that also includes the following genes: BPGM EGLN1 VHL EPAS1 EPOR HBA1 HBA2 HBB JAK2

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Alpha Globin (HBA1 and HBA2) Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Alpha Globin (HBA1 and HBA2) Deletion/Duplication that also includes the following genes: HBA1 HBA2

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Alpha Thalassemia (HBA1 and HBA2) 7 Deletions Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Alpha Thalassemia (HBA1 and HBA2) 7 Deletions that also includes the following genes: HBA1 HBA2

More info about this panel

Alpha Globin (HBA1 and HBA2) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Alpha Globin (HBA1 and HBA2) Sequencing that also includes the following genes: HBA1 HBA2

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Hemoglobin Evaluation Reflexive Cascade Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hemoglobin Evaluation Reflexive Cascade that also includes the following genes: HBA1 HBA2 HBB

More info about this panel

Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication that also includes the following genes: HBA1 HBA2

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HBA1, HBA2. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica HBA1, HBA2. MLPA testing that also includes the following genes: HBA1 HBA2

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Alpha thalassemia Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Alpha thalassemia that also includes the following genes: HBA1 HBA2

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Alpha Thalassemia - HBA Deletion/Duplication Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alpha Thalassemia - HBA Deletion/Duplication Analysis that also includes the following genes: HBA1 HBA2

More info about this panel

Alpha Thalassemia - HBA Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alpha Thalassemia - HBA Sequence Analysis that also includes the following genes: HBA1 HBA2

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Alpha Thalassemia - HBA Known Point Mutation Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alpha Thalassemia - HBA Known Point Mutation Analysis that also includes the following genes: HBA1 HBA2

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Alpha-thalassemia (deletion/duplication analysis of HBA1 and HBA2 genes) Panel

Portugal.

By CGC Genetics Alpha-thalassemia (deletion/duplication analysis of HBA1 and HBA2 genes) that also includes the following genes: HBA1 HBA2

More info about this panel

Alpha-thalassemia (sequence analysis of HBA1 and HBA2 genes) Panel

Portugal.

By CGC Genetics Alpha-thalassemia (sequence analysis of HBA1 and HBA2 genes) that also includes the following genes: HBA1 HBA2

More info about this panel

Hemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes) Panel

Portugal.

By CGC Genetics Hemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes) that also includes the following genes: HBA1 HBA2 HBB

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alpha thalassemai Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital alpha thalassemai that also includes the following genes: HBA1 HBA2

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Alpha Thalassemia Deletion/Duplication and Constant Spring Panel Panel

United States.

By PreventionGenetics PreventionGenetics Alpha Thalassemia Deletion/Duplication and Constant Spring Panel that also includes the following genes: HBA1 HBA2

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Alpha Thalassemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Alpha Thalassemia Sequencing Panel with CNV Detection that also includes the following genes: HBA1 HBA2

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Alpha thalassemia HBA1-HBA2 Panel

Germany.

By MGZ Medical Genetics Center Alpha thalassemia HBA1-HBA2 that also includes the following genes: HBA1 HBA2

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Alpha Thalassemia Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Alpha Thalassemia that also includes the following genes: HBA1 HBA2

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Thalassemia, alpha Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HBA2 gene.

More info about this panel

alpha Thalassemia Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum alpha Thalassemia that also includes the following genes: HBA1 HBA2 HBB

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Erythrocytes, Anemia Panel Panel

Germany.

By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B

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Alpha-Thalassemia (HBA1/HBA2) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner Alpha-Thalassemia (HBA1/HBA2) that also includes the following genes: HBA1 HBA2

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Alpha-Thalassemia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Alpha-Thalassemia that also includes the following genes: HBA1 HBA2

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Alpha globin gene sequencing Panel

United States.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Alpha globin gene sequencing that also includes the following genes: HBA1 HBA2

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Capillary Zone Electrophoresis (Sebia) Panel

United States.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Capillary Zone Electrophoresis (Sebia) that also includes the following genes: HBA1 HBA2 HBB HBD

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Cellulose Acetate Electrophoresis Panel

United States.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Cellulose Acetate Electrophoresis that also includes the following genes: HBA1 HBA2 HBB

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Multiplex Gap PCR for alpha thalassemia deletions Panel

United States.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Multiplex Gap PCR for alpha thalassemia deletions that also includes the following genes: HBA1 HBA2

More info about this panel

Alpha Globin gene Triplication Panel

United States.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Alpha Globin gene Triplication that also includes the following genes: HBA1 HBA2

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Alpha-Thalassemia (HBA) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Alpha-Thalassemia (HBA) that also includes the following genes: HBA1 HBA2

More info about this panel

Alpha-thalassaemia gene mapping Panel

Singapore.

By Molecular Diagnosis Centre National University Hospital Alpha-thalassaemia gene mapping that also includes the following genes: HBA1 HBA2

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Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

Alfa Thalassemia: Deletion analysis (a3.7, a4.2, a20.5, aSEA, aFIL and aMED) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alfa Thalassemia: Deletion analysis (a3.7, a4.2, a20.5, aSEA, aFIL and aMED) that also includes the following genes: HBA1 HBA2

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Alfa Thalassemia: HBA2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HBA2 gene.

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Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis that also includes the following genes: HBA1 HBA2

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Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

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Alpha-Globin Common Mutation Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Common Mutation Analysis that also includes the following genes: HBA1 HBA2

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Alpha-Globin Common Mutation Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Common Mutation Analysis (NY) that also includes the following genes: HBA1 HBA2

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Alpha-Globin Gene Deletion or Duplication (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Gene Deletion or Duplication (NY) that also includes the following genes: HBA1 HBA2

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Alpha-Globin Gene Sequencing Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Gene Sequencing that also includes the following genes: HBA1 HBA2

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Alpha-Globin Gene Deletion or Duplication Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Gene Deletion or Duplication that also includes the following genes: HBA1 HBA2

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Alpha-Globin Gene Sequencing (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Gene Sequencing (NY) that also includes the following genes: HBA1 HBA2

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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

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

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Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

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Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

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ALPHA-THALASSEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL ALPHA-THALASSEMIA that also includes the following genes: HBA1 HBA2

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Alpha Thalassemia, Sequencing HBA2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HBA2 gene.

More info about this panel

Alpha Thalassemia Panel

Germany.

By Labor Dr. Wisplinghoff Alpha Thalassemia that also includes the following genes: HBA1 HBA2

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planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

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planTrue ACOG & ACMG Screen Panel

United States.

By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB

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planTrue Standard Panel

United States.

By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

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Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing) that also includes the following genes: HBA1 HBA2 HBB

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CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

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CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

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Alpha thalassemia: Full gene panel sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Alpha thalassemia: Full gene panel sequencing (Rapid testing) that also includes the following genes: HBA1 HBA2

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Hb H (3 gene deletion): Full gene panel sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hb H (3 gene deletion): Full gene panel sequencing (Rapid testing) that also includes the following genes: HBA1 HBA2

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Hb Barts: Full gene panel sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hb Barts: Full gene panel sequencing (Rapid testing) that also includes the following genes: HBA1 HBA2

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Hb H/Constant Spring disease : Full gene panel sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hb H/Constant Spring disease : Full gene panel sequencing (Rapid testing) that also includes the following genes: HBA1 HBA2

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