Disorders

MTHFR Deficiency

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

Gene	Locus	Protein
MTHFR	1p36.3	Methylenetetrahydrofolate reductase

Laboratory	Test Method	Prenatal	Carrier *
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
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
Centogene AG, Rare Disease Company - Rostock, Germany	• 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
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
GENNET s.r.o., Laboratory of Molecular Genetics - Prague, Czech Republic	• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel
GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust, Molecular Haemostasis and Thrombosis - London, Great Britain
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	• Targeted mutation analysis • Analyte • Enzyme assay
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
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
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
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
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	• 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	• 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.