MTHFR gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to MTHFR gene

Symptoms // Phenotype % Cases
Intellectual disability Rare - less than 30% cases
Neoplasm Rare - less than 30% cases
Neurofibrillary tangles Rare - less than 30% cases
Behavioral abnormality Rare - less than 30% cases
Hallucinations Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with MTHFR gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Microcephaly
  • Dementia
  • Abnormal heart morphology
  • Delusions
  • Alzheimer disease
  • Abnormality of cardiovascular system morphology
  • Neural tube defect
  • Anencephaly

And 178 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MTHFR gene

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


THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1


Alternate names

THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 Is also known as thrombophilia due to factor 2 defect, venous thromboembolism, venous thrombosis

Description

Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). Genetic Heterogeneity of ThrombophiliaTHPH2 (OMIM ) is caused by mutation in the F5 gene (OMIM ) on chromosome 1q23; THPH3 (OMIM ) and THPH4 (OMIM ) are both caused by mutation in the PROC gene (OMIM ) on 2q; THPH5 (OMIM ) and THPH6 (OMIM ) are caused by mutation in the PROS1 gene (OMIM ) on 3q11; THPH7 (OMIM ) is caused by mutation in the AT3 gene (OMIM ) on 1q25; THPH8 (OMIM ) is caused by mutation in the F9 gene (OMIM ) on Xq27; THPH9 (OMIM ) is associated with decreased release of tissue plasminogen activator (PLAT ); THPH10 (OMIM ) is caused by mutation in the HCF2 gene (OMIM ) on 22q11; THPH11 (OMIM ) is caused by mutation in the HRG gene (OMIM ) on 3q27; and THPH12 (OMIM ) is associated with variation in the THBD gene (OMIM ) on 20p11.Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR ({607093.0003}); F13B ({134580.0003}); plasminogen activator inhibitor (SERPINE1 ); and several genes encoding fibrinogen (FGA, {134820}; FGB, {134830}; FGG, {134850}). Variation in the SERPINA10 (see {605271.0001}), KNG1 (OMIM ) and HABP2 (OMIM ) genes has also been reported.Protection against venous thrombosis is associated with variation in the F13A1 gene (OMIM ) on 6p25.

Most common symptoms of THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

  • Neoplasm
  • Gastrointestinal hemorrhage
  • Venous thrombosis
  • Thromboembolism
  • Pulmonary embolism


More info about THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

SOURCES: OMIM

DOWN SYNDROME


Alternate names

DOWN SYNDROME Is also known as trisomy 21

Description

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

Most common symptoms of DOWN SYNDROME

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


More info about DOWN SYNDROME

SOURCES: ORPHANET MESH OMIM

ISOLATED ANENCEPHALY/EXENCEPHALY


Description

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Most common symptoms of ISOLATED ANENCEPHALY/EXENCEPHALY

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


More info about ISOLATED ANENCEPHALY/EXENCEPHALY

SOURCES: ORPHANET OMIM

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY


Alternate names

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency, mthfr deficiency, methylene tetrahydrofolate reductase deficiency

Description

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

Most common symptoms of HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

SOURCES: OMIM ORPHANET

SCHIZOPHRENIA; SCZD


Alternate names

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Description

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

Most common symptoms of SCHIZOPHRENIA; SCZD

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


More info about SCHIZOPHRENIA; SCZD

SOURCES: OMIM

NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS


Alternate names

NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS Is also known as ntd, folate-sensitive

Description

Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (OMIM ) (Detrait et al., 2005).Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects.Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.

Most common symptoms of NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS

  • Abnormality of metabolism/homeostasis
  • Abnormal heart morphology
  • Spina bifida
  • Anencephaly
  • Myelomeningocele


More info about NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS

SOURCES: OMIM

TOTAL SPINA BIFIDA APERTA



More info about TOTAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

THORACOLUMBOSACRAL SPINA BIFIDA APERTA



More info about THORACOLUMBOSACRAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

LUMBOSACRAL SPINA BIFIDA APERTA



More info about LUMBOSACRAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

CERVICAL SPINA BIFIDA APERTA



More info about CERVICAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

CERVICOTHORACIC SPINA BIFIDA APERTA



More info about CERVICOTHORACIC SPINA BIFIDA APERTA

SOURCES: ORPHANET

UPPER THORACIC SPINA BIFIDA APERTA



More info about UPPER THORACIC SPINA BIFIDA APERTA

SOURCES: ORPHANET

TOTAL SPINA BIFIDA CYSTICA



More info about TOTAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

THORACOLUMBOSACRAL SPINA BIFIDA CYSTICA



More info about THORACOLUMBOSACRAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

LUMBOSACRAL SPINA BIFIDA CYSTICA



More info about LUMBOSACRAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

CERVICAL SPINA BIFIDA CYSTICA



More info about CERVICAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

CERVICOTHORACIC SPINA BIFIDA CYSTICA



More info about CERVICOTHORACIC SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

UPPER THORACIC SPINA BIFIDA CYSTICA



More info about UPPER THORACIC SPINA BIFIDA CYSTICA

SOURCES: ORPHANET


Potential gene panels for MTHFR gene

MTHFR Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the MTHFR gene.

More info about this panel

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

MTHFR Thermolabile Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MTHFR gene.

More info about this panel

Thrombophilia Mutation Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Thrombophilia Mutation Panel that also includes the following genes: F2 F5 MTHFR

More info about this panel

NGS Epilepsy/Seizure Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

MTHFR deficiency, thermolabile type Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the MTHFR gene.

More info about this panel

Methylenetetrahydrofolate Reductase Deficiency Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Analysis Panel

United States.

By Molecular Pathology Laboratory University of Pennsylvania Health System

This panel specifically test the MTHFR gene.

More info about this panel

Methylmalonic Acidemia Sequencing NextGen Panel Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Methylmalonic Acidemia Sequencing NextGen Panel that also includes the following genes: SUCLA2 TCN1 TCN2 CBS CD320 MCEE MMAA MMAB ACSF3 CBLIF

More info about this panel

MTHFR (Methylenetetrahydrofolate Reductase) Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the MTHFR gene.

More info about this panel

Hypercoagability Risk Panel Panel

United States.

By Genetics Laboratory - Department of Pathology Rush University Medical Center Hypercoagability Risk Panel that also includes the following genes: F2 F5 MTHFR

More info about this panel

Epilepsy/Seizure Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1

More info about this panel

Infantile Epilepsy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5

More info about this panel

Methylene Tetrahydrofolate Reductase genotyping Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Targeted Mutation 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 MTHFR gene.

More info about this panel

MTHFR 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 MTHFR gene.

More info about this panel

MTHFR Panel

United States.

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

This panel specifically test the MTHFR gene.

More info about this panel

Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS MCEE MMAA MMAB LMBRD1

More info about this panel

Thrombotic Risk, DNA Panel Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Thrombotic Risk, DNA Panel that also includes the following genes: F5 MTHFR

More info about this panel

Thrombophilic Polymorphism Panel (Factor V Leiden, Prothrombin G20210A, MTHFR C677T, MTHFR A1298C) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Thrombophilic Polymorphism Panel (Factor V Leiden, Prothrombin G20210A, MTHFR C677T, MTHFR A1298C) that also includes the following genes: F2 F5 MTHFR

More info about this panel

MTHFR Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the MTHFR gene.

More info about this panel

Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel

United States.

By GeneDx Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel that also includes the following genes: BTD SPR TH MMACHC CYP27A1 GALC GBE1 GCH1 ABCD1 ARG1

More info about this panel

MTHFR Thermolabile Variant Panel

Brazil.

By GENE Núcleo de Genética Médica de Minas Gerais

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Deficiency Panel

Czech Republic.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague

This panel specifically test the MTHFR gene.

More info about this panel

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB

More info about this panel

MTHFR, FII, FV, PAI. Simultaneous analysis of the polymorphims FII (c.20210G>A), FV (p.R506Q), MTHFR (c.677C>T) and 5G/4G in the 5´UTR region of the PAI gene Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica MTHFR, FII, FV, PAI. Simultaneous analysis of the polymorphims FII (c.20210G>A), FV (p.R506Q), MTHFR (c.677C>T) and 5G/4G in the 5´UTR region of the PAI gene that also includes the following genes: F2 F5 MTHFR SERPINE1

More info about this panel

MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln), MTHFR (c.677C>T) and MTHFR (c.1298A>C) Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln), MTHFR (c.677C>T) and MTHFR (c.1298A>C) that also includes the following genes: F2 F5 MTHFR

More info about this panel

MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln) and MTHFR (c.677C>T) Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln) and MTHFR (c.677C>T) that also includes the following genes: F2 F5 MTHFR

More info about this panel

MTHFR MUTATIONS Panel

United States.

By Molecular Pathology New York Presbyterian Hospital - Weill Cornell Medical Center

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR deficiency, thermolabile type Panel

Portugal.

By CGC Genetics

This panel specifically test the MTHFR gene.

More info about this panel

5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes) Panel

Portugal.

By CGC Genetics 5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes) that also includes the following genes: TYMS DPYD MTHFR

More info about this panel

MTHFR gene (sequence analysis) Panel

Portugal.

By CGC Genetics

This panel specifically test the MTHFR gene.

More info about this panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Portugal.

By CGC Genetics Epileptic encephalopathy (NGS panel for 67 genes) that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 SLC2A1 SLC9A6 SPTAN1 CDKL5

More info about this panel

Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene) Panel

Portugal.

By CGC Genetics Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene) that also includes the following genes: F2 F5 MTHFR SERPINE1

More info about this panel

MTHFR Sequence Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the MTHFR gene.

More info about this panel

Folate polymorphism , MTHFR Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the MTHFR gene.

More info about this panel

Homocysteinemia due to MTHFR deficiency Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR deficiency, thermolabile type Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Deficiency Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the MTHFR gene.

More info about this panel

Membranoproliferative glomerulonephritis Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Membranoproliferative glomerulonephritis that also includes the following genes: C1QB CFHR5 CFH MTHFR PLA2R1

More info about this panel

Homocystinuria Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Homocystinuria Sequencing Panel with CNV Detection that also includes the following genes: CBS MMADHC MTHFR MTR MTRR

More info about this panel

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB

More info about this panel

Disorders of Folate Metabolism and Transport Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Folate Metabolism and Transport Sequencing Panel with CNV Detection that also includes the following genes: SLC46A1 FOLR1 MTHFR

More info about this panel

Severe MTHFR Deficiency via MTHFR Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Thermolabile Variant Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MTHFR gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

MTHFR Thermolabile Variant p.A222V Panel

United States.

By FirmaLab

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR deficiency Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava

This panel specifically test the MTHFR gene.

More info about this panel

Hyperhomocysteïnemia due to methylene tetrahydrofolate reductase (MTHFR) deficiency Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the MTHFR gene.

More info about this panel

Thrombophilia Panel Panel

India.

By GeneTech ATS GeneTech Private Limited Thrombophilia Panel that also includes the following genes: F2 F5 MTHFR

More info about this panel

Methylenetetrahydrofolate Reductase Deficiency (MTHFR) Panel

Czech Republic.

By Laboratory Medicine Center BioLab spol. s.r.o. Klatovy

This panel specifically test the MTHFR gene.

More info about this panel

Metabolic disease with epilepsy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Metabolic disease with epilepsy panel that also includes the following genes: SLC2A1 GPHN DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CPT2 CTSD

More info about this panel

Homocystinuria Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MTHFR 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

CentoICU platinum plus Panel

Germany.

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

More info about this panel

New Born testing (CentoICU) Panel

Germany.

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

More info about this panel

MTHFR deficiency Panel

United Kingdom.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust

This panel specifically test the MTHFR gene.

More info about this panel

Pharmacogenetic panel Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Pharmacogenetic panel that also includes the following genes: SLC19A1 SLCO1B1 SOD2 TPMT UGT1A1 CCR5 VKORC1 ADH1B CYP2B6 CYP2C19

More info about this panel

Homocysteinemia due to MTHFR deficiency Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Panel

Israel.

By Medical Genetics Institute Shaare Zedek Medical Center

This panel specifically test the MTHFR gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Germany.

By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1

More info about this panel

Metabolic Epilepsy Panel Panel

Germany.

By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

MTHFR gene variants Panel

India.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Deficiency Panel

Sweden.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Thermolabile Variant (677C>T, Ala222Val) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the MTHFR gene.

More info about this panel

Thrombophilia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Thrombophilia that also includes the following genes: F2 F5 MTHFR

More info about this panel

Methylmalonic Aciduria and Homocystinuria Panel

Estonia.

By Asper Biogene Asper Biogene LLC Methylmalonic Aciduria and Homocystinuria that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB

More info about this panel

MTHFR Panel

United States.

By Cytogenetics and Molecular Genetics Laboratory Mercy St. Vincent Medical Center

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR, 1298A>C Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Thermolabile Variant Panel

United States.

By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the MTHFR gene.

More info about this panel

Methylenetetrahydrofolate reductase (MTHFR) polymorphism Panel

Singapore.

By Molecular Diagnosis Centre National University Hospital

This panel specifically test the MTHFR 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

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Invitae Homocystinuria Panel Panel

United States.

By Invitae Invitae Homocystinuria Panel that also includes the following genes: CBS MTHFR MTR MTRR

More info about this panel

Invitae Treatable Neurometabolic Disorders Panel Panel

United States.

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2

More info about this panel

MTHFR deficiency: MTHFR gene mutations analysis (C677T and A1298C) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MTHFR gene.

More info about this panel

Glaucoma (Advance) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

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Methylenetetrahydrofolate Reductase Panel

United States.

By Quest Diagnostics Nichols Institute Chantilly

This panel specifically test the MTHFR gene.

More info about this panel

Cardiac Medication Metabolism Panel

United States.

By Molecular Diagnostics and Toxicology Laboratory Cardiac Medication Metabolism that also includes the following genes: CYP2C19 CYP2C9 CYP2D6 F2 F5 APOE MTHFR

More info about this panel

Comprehensive Medication Metabolism Panel

United States.

By Molecular Diagnostics and Toxicology Laboratory Comprehensive Medication Metabolism that also includes the following genes: CYP2C19 CYP2C9 CYP2D6 F2 F5 APOE MTHFR

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Expanded Comprehensive Medication Metabolism Panel

United States.

By Molecular Diagnostics and Toxicology Laboratory Expanded Comprehensive Medication Metabolism that also includes the following genes: CYP2C19 CYP2C9 CYP2D6 F2 F5 APOE MTHFR

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Cobalamin Homocysteine Methionine Deficiency NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cobalamin Homocysteine Methionine Deficiency NGS Panel that also includes the following genes: TCN2 CBS CD320 MCEE MMAA MMAB LMBRD1 MMACHC CTH MMADHC

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Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Glaucoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2

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Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

MTHFR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MTHFR gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR A1298C C677T Panel

Argentina.

By IBC Instituto de Bioquimica Clinica SRL IBC Instituto de Bioquimica Clinica SRL

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Panel

United States.

By Genelex

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Panel

United States.

By Genelex

This panel specifically test the MTHFR gene.

More info about this panel

YouScript Cardio Panel

United States.

By Genelex YouScript Cardio that also includes the following genes: SLCO1B1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 F2 F5 MTHFR

More info about this panel

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

Finland.

By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE

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

Metabolic Epilepsy Panel Panel

Finland.

By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Homocystinuria Core Panel Panel

Finland.

By Blueprint Genetics Homocystinuria Core Panel that also includes the following genes: CBS MTHFR MTR MTRR

More info about this panel

Genetic Study of Hereditary Thrombophilia (11 genes) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Hereditary Thrombophilia (11 genes) that also includes the following genes: F12 F13A1 F2 F5 GP1BA MTHFR SERPINC1 SERPINE1 PROCR PROS1

More info about this panel

Pain Medication DNA Insight Panel

United States.

By Pathway Genomics Pain Medication DNA Insight that also includes the following genes: CYP2B6 CYP2C19 CYP2C9 CYP2D6 MTHFR OPRM1

More info about this panel

Thrombophilia Panel Panel

Iran.

By Genomic Research Center Shahid Beheshti University of Medical Sciences Thrombophilia Panel that also includes the following genes: F2 F5 MTHFR SERPINE1

More info about this panel

Thrombophilia, Sanger panel Panel

Spain.

By Bioarray

This panel specifically test the MTHFR gene.

More info about this panel

Homocystinuria due to methylenetetrahydrofolate reductase deficiency Panel

Spain.

By Bioarray

This panel specifically test the MTHFR gene.

More info about this panel

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

More info about this panel

Genecept Assay™ Panel

United States.

By Genomind Genomind, Inc Genecept Assay™ that also includes the following genes: BDNF SLC6A4 CACNA1C CYP2B6 CYP2C19 CYP2C9 CYP2D6 CYP3A5 ADRA2A DRD2

More info about this panel

Comprehensive Pharmacogenomics (PGX) Panel Panel

United States.

By ApolloGen, Inc. Comprehensive Pharmacogenomics (PGX) Panel that also includes the following genes: SLCO1B1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 F5 HTR2A MTHFR

More info about this panel

MTHFR gene polymorphisms 677 T>C & 1298A>C mutations Panel

India.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics

This panel specifically test the MTHFR gene.

More info about this panel

Thrombophilia Panel Panel

Iran.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences Thrombophilia Panel that also includes the following genes: F2 F5 MTHFR SERPINE1

More info about this panel

Rxight Pharmacogenetics Program Panel

United States.

By MD Labs MD Labs Rxight Pharmacogenetics Program that also includes the following genes: SLCO1B1 TPMT UGT2B15 ANKK1 VKORC1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2D6

More info about this panel

HOMOCYSTINURIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR genotyping Panel

United States.

By Alpha Genomix Laboratories

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR Deficiency, Sequencing MTHFR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MTHFR gene.

More info about this panel

Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: VANGL2 VANGL1 MMACHC FUZ MTHFD1 MTHFR MTR MTRR

More info about this panel

Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes Panel

Spain.

By Reference Laboratory Genetics Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes that also includes the following genes: VWF ADAMTS13 MCFD2 F10 F11 F12 F13A1 F2 F5 F7

More info about this panel

MTHFR 677 and MTHFR 1298 Panel

United States.

By True Health Diagnostics

This panel specifically test the MTHFR gene.

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

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

More info about this panel

Tempus xT assay Panel

United States.

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

More info about this panel

Homocystinuria: gene sequencing panel (RAPID testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Homocystinuria: gene sequencing panel (RAPID testing) that also includes the following genes: CBS MTHFR MTR MTRR

More info about this panel

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

More info about this panel

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

More info about this panel

Homocystinuria due to MTHFR deficiency: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the MTHFR gene.

More info about this panel

MTHFR polymorphism Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the MTHFR gene.

More info about this panel


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