HFE gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to HFE gene

Symptoms // Phenotype % Cases
Hepatocellular carcinoma Uncommon - Between 30% and 50% cases
Hyperpigmentation of the skin Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Porphyrinuria Uncommon - Between 30% and 50% cases
Hypertrichosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Fragile skin
  • Hepatic steatosis
  • Cirrhosis
  • Hepatitis
  • Alopecia
  • Alcoholism
  • Rarely - Less than 30% cases

  • Intellectual disability
  • Cardiomyopathy

And 136 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HFE gene

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


ALZHEIMER DISEASE; AD


Alternate names

ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia

Description

Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer DiseaseAlzheimer disease is a genetically heterogeneous disorder. See also AD2 (OMIM ), associated with the APOE*4 allele (OMIM ) on chromosome 19; AD3 (OMIM ), caused by mutation in the presenilin-1 gene (PSEN1 ) on 14q; and AD4 (OMIM ), caused by mutation in the PSEN2 gene (OMIM ) on 1q31.There is evidence for additional AD loci on other chromosomes; see AD5 (OMIM ) on 12p11, AD6 (OMIM ) on 10q24, AD7 (OMIM ) on 10p13, AD8 (OMIM ) on 20p, AD9 (OMIM ), associated with variation in the ABCA7 gene (OMIM ) on 19p13, AD10 (OMIM ) on 7q36, AD11 (OMIM ) on 9q22, AD12 (OMIM ) on 8p12-q22, AD13 (OMIM ) on 1q21, AD14 (OMIM ) on 1q25, AD15 (OMIM ) on 3q22-q24, AD16 (OMIM ) on Xq21.3, AD17 (OMIM ) on 6p21.2, and AD18 (OMIM ), associated with variation in the ADAM10 gene (OMIM ) on 15q21.Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (OMIM ).Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1 ), the transferrin gene (TF ), the hemochromatosis gene (HFE ), the NOS3 gene (OMIM ), the vascular endothelial growth factor gene (VEGF ), the ABCA2 gene (OMIM ), and the TNF gene (OMIM ) (see MOLECULAR GENETICS).

Most common symptoms of ALZHEIMER DISEASE; AD

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Edema


More info about ALZHEIMER DISEASE; AD

SOURCES: OMIM

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Alternate names

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis, symptomatic form of classic hemochromatosis

Description

Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

Most common symptoms of SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

SOURCES: ORPHANET

HEMOCHROMATOSIS, TYPE 1; HFE1


Alternate names

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe, hemochromatosis, hereditary, hemochromatosis, hh

Description

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

Most common symptoms of HEMOCHROMATOSIS, TYPE 1; HFE1

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


More info about HEMOCHROMATOSIS, TYPE 1; HFE1

SOURCES: ORPHANET OMIM

PORPHYRIA VARIEGATA


Alternate names

PORPHYRIA VARIEGATA Is also known as variegate porphyria, ppox deficiency, porphyria, south african type, protoporphyrinogen oxidase deficiency, vp

Description

Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

Most common symptoms of PORPHYRIA VARIEGATA

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


More info about PORPHYRIA VARIEGATA

SOURCES: OMIM ORPHANET MESH

FAMILIAL PORPHYRIA CUTANEA TARDA


Alternate names

FAMILIAL PORPHYRIA CUTANEA TARDA Is also known as porphyria cutanea tarda type ii


More info about FAMILIAL PORPHYRIA CUTANEA TARDA

SOURCES: ORPHANET

PORPHYRIA CUTANEA TARDA


Alternate names

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency, pct, pct, type ii, pct, 'familial' type, urod deficiency, porphyria cutanea tarda, type ii, porphyria, hepatocutaneous type

Description

Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

Most common symptoms of PORPHYRIA CUTANEA TARDA

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


More info about PORPHYRIA CUTANEA TARDA

SOURCES: OMIM ORPHANET

SPORADIC PORPHYRIA CUTANEA TARDA


Alternate names

SPORADIC PORPHYRIA CUTANEA TARDA Is also known as pct, type i, porphyria cutanea tarda type i, pct, 'sporadic' type

Description

De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD ) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (OMIM ), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007).

Most common symptoms of SPORADIC PORPHYRIA CUTANEA TARDA

  • Eczema
  • Hepatitis
  • Hypertrichosis
  • Hyperpigmentation of the skin
  • Hepatic fibrosis


More info about SPORADIC PORPHYRIA CUTANEA TARDA

SOURCES: MESH OMIM ORPHANET

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7


Alternate names

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7 Is also known as nephropathy, diabetic, susceptibility to, proliferative retinopathy, diabetic, susceptibility to, nonproliferative retinopathy, diabetic, susceptibility to


More info about MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7

SOURCES: OMIM

TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2



More info about TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2

SOURCES: OMIM


Potential gene panels for HFE gene

HFE Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the HFE gene.

More info about this panel

HFE Mutation Panel Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the HFE gene.

More info about this panel

Hereditary hemochromatosis Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"

This panel specifically test the HFE gene.

More info about this panel

HFE-Associated Hereditary Hemochromatosis Panel

United States.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis, C282Y with reflex to H63D Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis, H63D Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the HFE gene.

More info about this panel

HFE Targeted Mutation Analysis for Hemochromatosis Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the HFE gene.

More info about this panel

Hereditary Hemochromatosis Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories

This panel specifically test the HFE gene.

More info about this panel

HFE Genotype Analysis Panel

United States.

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

This panel specifically test the HFE gene.

More info about this panel

HFE Deletion/duplication analysis Panel

United States.

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

This panel specifically test the HFE gene.

More info about this panel

Hereditary Hemochromatosis Panel

United States.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force

This panel specifically test the HFE gene.

More info about this panel

Hereditary Hemochromatosis Panel

United States.

By Michigan State University Clinical Genetics Laboratory Michigan State University

This panel specifically test the HFE gene.

More info about this panel

Hyperferritinemia Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hyperferritinemia Panel that also includes the following genes: SEC23B SLC40A1 TF TFR2 HAMP CDAN1 CP STEAP3 SLC25A38 ALAS2

More info about this panel

Hereditary Hemochromatosis (HFE) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the HFE gene.

More info about this panel

HFE - Associated Hereditary Hemochromatosis Panel

Brazil.

By GENE Núcleo de Genética Médica de Minas Gerais

This panel specifically test the HFE gene.

More info about this panel

Hereditary Hemochromatosis Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the HFE gene.

More info about this panel

HFE. Detection of the mutations p.Cys282Tyr, p.His63Asp and p.Ser65Cys by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HFE gene.

More info about this panel

HFE. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HFE gene.

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Hemochromatosis (frequent mutations of HFE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis (sequence analysis of HFE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

Hemochromatosis (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

Hereditary hemocromatosis Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the HFE gene.

More info about this panel

HFE-associated hereditary hemochromatosis Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the HFE gene.

More info about this panel

Haemochromatosis Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the HFE gene.

More info about this panel

HFE-Associated Hereditary Hemochromatosis Panel

Cyprus.

By Molecular Genetics, Function and Therapy Cyprus Institute of Neurology and Genetics

This panel specifically test the HFE gene.

More info about this panel

Hereditary Hemochromatosis via HFE Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HFE gene.

More info about this panel

Hereditary Hemochromatosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Hemochromatosis Sequencing Panel with CNV Detection that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

HFE-Associated Hereditary Hemochromatosis Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"

This panel specifically test the HFE gene.

More info about this panel

HFE-Associated Hereditary Hemochromatosis Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the HFE gene.

More info about this panel

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel

HFE-Associated Hereditary Hemochromatosis Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Hemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

HFE-Associated Hereditary Hemochromatosis Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava

This panel specifically test the HFE gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Hemochromatosis classical Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis Panel

Norway.

By Furst Medical Laboratories, FurstNAT

This panel specifically test the HFE gene.

More info about this panel

HFE-related hemochromatosis Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis Panel

Israel.

By Medical Genetics Institute Shaare Zedek Medical Center

This panel specifically test the HFE gene.

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST

More info about this panel

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Germany.

By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2

More info about this panel

Single gene testing HFE Panel

Germany.

By CeGaT GmbH

This panel specifically test the HFE gene.

More info about this panel

Autoinflammatory diseases Panel Panel

Germany.

By CeGaT GmbH Autoinflammatory diseases Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 CARD14 NLRP12 SLC29A3 HFE

More info about this panel

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

More info about this panel

Defects of phagocytosis Panel Panel

Germany.

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

More info about this panel

Hereditary haemochromatosis Panel

India.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology

This panel specifically test the HFE gene.

More info about this panel

HFE-Associated Hereditary Hemochromatosis Panel

Spain.

By Medical Genetics Unit Sistemas Genómicos

This panel specifically test the HFE gene.

More info about this panel

Haemochromatosis Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Haemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

HFE-Associated Hereditary Hemochromatosis (HH type 1) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the HFE gene.

More info about this panel

Porphyria Panel

Estonia.

By Asper Biogene Asper Biogene LLC Porphyria that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX

More info about this panel

Hemochromatosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel that also includes the following genes: BMP6 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV ATP4A

More info about this panel

Hemochromatosis, C282Y Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the HFE gene.

More info about this panel

Restrictive Cardiomyopathy Panel Panel

Spain.

By Health in Code Restrictive Cardiomyopathy Panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTN TTR ACTC1 ACTN2 MYPN DES

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP

More info about this panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Spain.

By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4

More info about this panel

Cardiac Conduction Disease Panel Panel

Spain.

By Health in Code Cardiac Conduction Disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 LDB3 HCN4

More info about this panel

Cardiomyopathies Panel Panel

Spain.

By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1

More info about this panel

Ventricular arrhythmia and sudden death without structural heart disease Panel

Spain.

By Health in Code Ventricular arrhythmia and sudden death without structural heart disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TBX5 TNNC1 TNNI3

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

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Cardiac conduction disease Panel Panel

Spain.

By Health in Code Cardiac conduction disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 IRX3 KCNK17

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

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Resctrictive cardiomyopathy Panel

Spain.

By Health in Code Resctrictive cardiomyopathy that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTN TTR ACTC1 ACTN2 MYPN DES

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

HFE-Associated Hereditary Hemochromatosis Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis C282Y H63D S65C Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the HFE gene.

More info about this panel

HFE Targeted Mutation Analysis Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the HFE gene.

More info about this panel

HFE Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the HFE gene.

More info about this panel

Haemochromatosis (HFE) gene mutations Panel

Singapore.

By Molecular Diagnosis Centre National University Hospital

This panel specifically test the HFE gene.

More info about this panel

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

Hemochromatosis Panel

Slovakia.

By MedGene

This panel specifically test the HFE gene.

More info about this panel

Invitae Hereditary Hemochromatosis Panel Panel

United States.

By Invitae Invitae Hereditary Hemochromatosis Panel that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

Hemochromatosis type 1, Hereditary: HFE gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis type 1, Hereditary: HFE gene, C282Y, H63D, S65C mutations Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HFE gene.

More info about this panel

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

More info about this panel

Hereditary Hemochromatosis DNA Mutation Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute Chantilly

This panel specifically test the HFE gene.

More info about this panel

Hereditary Hemochromatosis DNA Mutation Analysis (non-NY) Panel

United States.

By Quest Diagnostics Nichols Institute Chantilly

This panel specifically test the HFE gene.

More info about this panel

HFE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HFE gene.

More info about this panel

H-CHROMATON Panel

Hungary.

By PentaCoreLab H-CHROMATON that also includes the following genes: SLC40A1 HAMP HFE HJV

More info about this panel

Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

More info about this panel

Hereditary Hemochromatosis Panel Panel

Finland.

By Blueprint Genetics Hereditary Hemochromatosis Panel that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

Porphyria Panel Panel

Finland.

By Blueprint Genetics Porphyria Panel that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

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

More info about this panel

Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Anemia Panel Panel

Finland.

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

More info about this panel

Hemochromatosis type 1 Panel

Spain.

By Bioarray

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis NGS and Deletion and Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hemochromatosis NGS and Deletion and Duplication Panel that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

HFE Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the HFE gene.

More info about this panel

Exome Panel

Brazil.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9

More info about this panel

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

More info about this panel

HEMOCHROMATOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HEMOCHROMATOSIS NGS PANEL that also includes the following genes: BMP6 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

Hemochromatosis Type 1, Mutations (C282Y, H63D, S65C) HFE Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HFE gene.

More info about this panel

Hereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 HFE HJV

More info about this panel

Hemochromatosis type 1 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the HFE gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

HFE-Associated Hereditary Hemochromatosis: targeted gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the HFE gene.

More info about this panel

HFE genotyping Panel

Canada.

By Molecular Genetics, Sunnybrook HSC Sunnybrook Health Sciences Centre

This panel specifically test the HFE gene.

More info about this panel

Hemochromatosis Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the HFE gene.

More info about this panel


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