Disorders

MTHFR Thermolabile Variant

Synonym(s): Cardiovascular Disease Risk Factor (MTHFR Thermolabile Variant), Hyperhomocysteinemia (MTHFR Thermolabile Variant), MTHFR Thermolabile Variant Thrombophilia, Neural Tube Defect Risk Factor (MTHFR Thermolabile Variant), Preeclampsia Risk Factor (MTHFR Thermolabile Variant)

OMIM

Gene	Locus	Protein
MTHFR	1p36.3	Methylenetetrahydrofolate reductase

Laboratory	Test Method	Prenatal	Carrier *
Akron Children's Hospital, Molecular Diagnostic Laboratory - Akron, OH, USA	• Targeted mutation analysis
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA	• Targeted mutation analysis
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Targeted mutation analysis
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark	• Targeted mutation analysis
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Bay Area Health Trust - Hamilton Regional Laboratory Medicine Program, Bay Area Genetic Laboratory - Hamilton, Canada	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Targeted mutation analysis
bio.logis Center for Human Genetics - Frankfurt, Germany	• Targeted mutation analysis
BloodCenter of Wisconsin, Hemostasis Reference Laboratory - Milwaukee, WI, USA	• Targeted mutation analysis
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• Targeted mutation analysis
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany	• Targeted mutation analysis
Center for Human Genetics, Inc - Cambridge, MA, USA	• Targeted mutation analysis
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany	• Targeted mutation analysis
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India	• Targeted mutation analysis
CGB Laboratory Inc - Ostrava, Czech Republic	• Targeted mutation analysis
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
CGC Genetics USA, Cytogenetics and Molecular Diagnostics Lab - Newark, NJ, USA	• Targeted mutation analysis
Children's Hospital and Research Center Oakland, Molecular Genetics - Oakland, CA, USA	• Targeted mutation analysis
Children's Mercy Hospital and Clinics, Molecular Genetics Laboratory - Kansas City, MO, USA	• Targeted mutation analysis
Children's National Medical Center, Biochemical Genetics and Metabolism Laboratory - Washington, DC, USA	• Targeted mutation analysis
CIBIC S.A. - Rosario, Argentina	• Targeted mutation analysis
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Targeted mutation analysis
Dayton Children's Medical Center, Molecular and Biochemical Genetics Laboratory - Dayton, OH, USA	• Targeted mutation analysis
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA	• Targeted mutation analysis
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA	• Targeted mutation analysis
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada	• Targeted mutation analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Targeted mutation analysis
GENDA - Ciudad autonoma de Buenos Aires, Argentina	• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey	• Targeted mutation analysis
Genomac International, s.r.o., Laboratory for Molecular Genetics - Prague, Czech Republic	• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel	• Targeted mutation analysis
Hartford Hospital-Hartford-CT-USA, Clinical Lab Partners/Molecular Genetics and Cytogenetics - Newington, CT, USA	• Targeted mutation analysis
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Targeted mutation analysis
HIBM Research Group - Reseda, CA, USA	• Targeted mutation analysis
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada	• Targeted mutation analysis
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA	• Targeted mutation analysis
Intergen Genetics Centre - Ankara, Turkey	• Targeted mutation analysis
Kimball Genetics - A Division of LabCorp, Molecular Diagnostic Laboratory - Denver, CO, USA	• Targeted mutation analysis
Kingston General Hospital, Molecular Diagnostic Laboratory - Kingston, Canada	• Targeted mutation analysis
LabCorp, Molecular Biology - Research Triangle Park, NC, USA	• Targeted mutation analysis
McGill University Health Centre, Molecular Diagnostics - Montreal, Canada	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia	• Targeted mutation analysis
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Targeted mutation analysis
MyGen Laboratorio - Madrid, Spain	• Targeted mutation analysis
National University Hospital, Molecular Diagnosis Centre - Department of Laboratory Medicine - Singapore, Singapore	• Targeted mutation analysis
Nebraska Medical Center, Molecular Diagnostic Laboratory - Omaha, NE, USA	• Targeted mutation analysis
New Jersey Medical School, Institute of Genomic Medicine - Newark, NJ, USA	• Targeted mutation analysis
New York Presbyterian Hospital - Weill Cornell Medical Center, Molecular Pathology - New York, NY, USA	• Targeted mutation analysis
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil	• Targeted mutation analysis
Ohio State University, Molecular Pathology Laboratory - Columbus, OH, USA	• Targeted mutation analysis
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA	• Targeted mutation analysis
P.D. Hinduja National Hospital - MRC, Department of Laboratory Medicine - Mumbai, India	• Targeted mutation analysis
Pro Genetic, Inc, University Children's Genetics Laboratory - Glendale, CA, USA	• Targeted mutation analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• Targeted mutation analysis
Providence Sacred Heart Medical Center and Children's Hospital, Department of Laboratory Medicine/Molecular Diagnostic Division - Spokane, WA, USA	• Targeted mutation analysis
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA	• Targeted mutation analysis
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA	• Targeted mutation analysis
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands	• Targeted mutation analysis • Enzyme assay
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Targeted mutation analysis
Research and Innovation - Padova, Italy	• Targeted mutation analysis
Saint Barnabas Medical Center, Diagnostic Molecular Pathology - Livingston, NJ, USA	• Targeted mutation analysis
Saint Louis University Health Sciences Center, DNA Diagnostic Laboratory - Saint Louis, MO, USA	• Targeted mutation analysis
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Targeted mutation analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Targeted mutation analysis
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA	• Targeted mutation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Targeted mutation analysis
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA	• Targeted mutation analysis
Sunnybrook Health Sciences Centre, Molecular Genetics Laboratory - Toronto, Canada	• Targeted mutation analysis
SUNY Upstate Medical University, Molecular Diagnostic Laboratory - Syracuse, NY, USA	• Targeted mutation analysis
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA	• Targeted mutation analysis
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Targeted mutation analysis • Analyte
University Health Network, Molecular Diagnostics Laboratory - Toronto, Canada	• Targeted mutation analysis
University Hospital Motol, Department of Biology and Medical Genetics - Prague, Czech Republic	• Targeted mutation analysis
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA	• Targeted mutation analysis
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada	• Targeted mutation analysis
University of California Davis Health System, Molecular Diagnostic Laboratory - Sacramento, CA, USA	• Targeted mutation analysis
University of California Los Angeles, UCLA Diagnostic Molecular Pathology Laboratory - Los Angeles, CA, USA	• Targeted mutation analysis
University of California San Diego, Molecular Diagnostics Laboratory - La Jolla, CA, USA	• Targeted mutation analysis
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA	• Targeted mutation analysis
University of Michigan, Molecular Diagnostics Laboratory - Ann Arbor, MI, USA	• Targeted mutation analysis
University of Minnesota, University of Minnesota Physicians Outreach Laboratory - Minneapolis, MN, USA	• Targeted mutation analysis
University of Pittsburgh Medical Center, Division of Molecular Diagnostics - Pittsburgh, PA, USA	• Targeted mutation analysis
University of Tennessee Medical Center, Molecular Diagnostics Laboratory - Knoxville, TN, USA	• Targeted mutation analysis
University of Toledo Medical Center, Molecular Diagnostics Laboratory - Toledo, OH, USA	• Targeted mutation analysis
Vanderbilt University Medical Center, Molecular Diagnostics Laboratory - Nashville, TN, USA	• Targeted mutation analysis
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, USA	• Analyte

^* 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.