Disorders


 

MTHFR Deficiency


Synonym(s): Homocystinuria (MTHFR Deficiency), Methylenetetrahydrofolate Reductase Deficiency

 

OMIM

GeneLocusProtein
MTHFR1p36.3Methylenetetrahydrofolate reductase

Laboratory Test Method Prenatal Carrier *
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA• Sequence analysis of the entire coding region
 
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Targeted mutation analysis
• Analyte
 
bio.logis Center for Human Genetics - Frankfurt, Germany• Targeted mutation analysis
 
BioAnalytica-GenoType S.A., Molecular Cytogenetic Research and Applications Lab - Athens, Greece• Targeted mutation analysis
 
BioLab spol. s.r.o., Molecular Biology Laboratory - Klatovy, Czech Republic• Targeted mutation analysis
• Analyte
 
Burc Molecular Genetics Laboratory - Istanbul, Turkey• Targeted mutation analysis
 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India• Targeted mutation analysis
 
CGC Genetics - Porto, Portugal• Targeted mutation analysis
 
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
• Targeted mutation analysis
Creighton University Medical Center, Creighton Medical Laboratories - Omaha, NE, USA• Targeted mutation analysis
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA• Analyte
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
GENNET s.r.o., Laboratory of Molecular Genetics - Prague, Czech Republic• Targeted mutation analysis
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust, Molecular Haemostasis and Thrombosis - London, Great Britain• Sequence analysis of the entire coding region
 
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Targeted mutation analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Analyte
• Enzyme assay
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
Masaryk Hospital - Blood Bank, DNA Laboratory - Usti nad Labem, Czech Republic• Targeted mutation analysis
 
Mayo Clinic - Minnesota, Special Coagulation DNA Diagnostic Laboratory - Rochester, MN, USA• Targeted mutation analysis
 
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada• Linkage analysis
 
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
 
P.D. Hinduja National Hospital - MRC, Department of Laboratory Medicine - Mumbai, India• Targeted mutation analysis
 
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA• Targeted mutation analysis
• Analyte
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Targeted mutation analysis
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
 
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
• Analyte
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland• Targeted mutation analysis
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic• Targeted mutation analysis
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA• Analyte
University of Connecticut Health Center, Human Genetics Laboratory - Farmington, CT, USA• Targeted mutation analysis
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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