MTHFR

OMIMHGNC

Locus: 1p36.22

Protein: Methylenetetrahydrofolate reductase

 

Disorders

Tests

Test Type
Molecular (110)
Multi-Gene Panel (63)
Multi-Method Panel (23)
Test Method
Del/Dup (CNV) (25)
Linkage Analysis (2)
Mutation Scanning of Select Exons (7)
Mutation Scanning of Entire Coding Region (4)
Sequencing, Capillary (Sanger) (24)
Genotyping (Microarray, Beads, etc.) (33)
Repeat Expansion / Contraction (3)
Uniparental Disomy (1)
Sequencing, Next Gen (46)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (20)
Carrier (52)
Lab Location
USA(51)
Spain(9)
Netherlands(1)
Germany(11)
Canada(9)
Singapore(1)
Czech Republic(2)
Korea, Republic of(1)
Poland(4)
Turkey(3)
Portugal(6)
Iran, Islamic Republic of(2)
Bulgaria(2)
Estonia(1)
India(1)
Finland(5)
Austria(1)
 
MTHFR Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Thrombophilia Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 1-2 weeks
price: contact lab
MTHFR genotype
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
TAT: 2 weeks
price: contact lab
Methylenetetrahydrofolate reductase (MTHFR) polymorphism
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital - Singapore, Singapore
TAT: 1 week
price: contact lab
MTHFR Thermolabile Variant Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Nebraska Medical Center, Molecular Diagnostic Laboratory - Omaha, NE, USA
MTHFR Thermolabile Variant Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA
MTHFR Sequence analysis
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Radboud University Medical Center, Translational Metabolic Laboratory - Nijmegen, Netherlands
MTHFR Deficiency Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
MTHFR Thermolabile Variant Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Methylenetetrahydrofolate reductase (MTHFR) deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
TAT: 1-2 weeks
price: contact lab
MTHFR Mutation (Methylene-tetrahydrofolate Reductase) (C677T)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
TAT: 1 week
price: contact lab
MTHFR 2 Mutations (C677T and A1298C) Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Special Coagulation DNA Diagnostic Laboratory - Rochester, MN, USA
TAT: 4 weeks
price: contact lab
iGene Pharmacogenetics
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
MTHFR-related disorder test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Deep Vein Thrombosis / Peripheral Arterial Occlusive Disease Test (PAOD) - F5 gene analysis (Leiden mutation) / F2 gene analysis (G20210A mutation) / MTHFR gene analysis - panel
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 7-10 days
price: contact lab
MTHFR
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Bay Area Genetic Laboratory (BAGL) - Hamilton Regional Laboratory Medicine Program - Bay Area Health Trust - Hamilton, Canada
TAT: 2 weeks
price: contact lab
MTHFR Variant Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Thrombophilia Panel II-TCH
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 1-2 days
price: contact lab
MTHFR A1298C Mutation Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 1-2 days
price: contact lab
MTHFR C677T Mutation Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 3-4 weeks
price: contact lab
MTHFR Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
MTHFR Thermolabile Variant (677C>T, Ala222Val)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 12-13 weeks
price: contact lab
Epilepsy and Seizure Disorders: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Detection of polymorphism A222V in the MTHFR gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
Simultaneous analysis of FII, FV and MTHFR
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
Simultaneous analysis of FII, FV, MTHFR and SERPINE1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 1-2 weeks
price: contact lab
MTHFR
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
TAT: 7-10 days
price: contact lab
Methylenetetra-Hydrofolate Reductase (MTHFR)
method(s):
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA
TAT: 1 week
price: contact lab
MTHFR Polymorphism
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 2-3 weeks
price: contact lab
Pain Medication DNA Insight
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Pathway Genomics Corporation - San Diego, CA, USA
TAT: 2-3 weeks
price: contact lab
Cardiac DNA Inisight
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Pathway Genomics Corporation - San Diego, CA, USA
TAT: 4-6 weeks
price: contact lab
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-5 weeks
price: contact lab
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-6 weeks
price: contact lab
devACT Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
Thrombophilia Test (the MTHFR gene - the most common mutations)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
MTHFR
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Genelex Labs LLC - Seattle, WA, USA
MTHFR Deficiency
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Laboratories AGEL a.s. - Novy Jicin, Czech Republic
MTHFR Deficiency, Mutation (C677T)
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
MTHFR Deficiency, Mutation (A1298C)
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-10 days
price: contact lab
MTHFR Deficiency: Severe
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 1 week
price: contact lab
Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Epilepsy Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
MTHFR gene (sequence analysis)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Methotrexate resistance (mutations C677T and A1298C of MTHFR gene)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
MTHFR Thermolabile Variant Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Quest Diagnostics- Marlborough, MA, Molecular Genetics Laboratory - Marlborough, MA, USA
TAT: 2-3 days
price: contact lab
Baby Genes Newborn Screening Panel
method(s): ◦ Chromosome Analysis ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
Baby Genes Inc - Golden, CO, USA
TAT: 1 week
price: contact lab
MTHFR
method(s): ◦ Mutation Scanning of Select Exons 
Parseh Pathobiology & Genetics Laboratory - Tehran, Iran, Islamic Republic of
MTHFR Thermolabile Variant
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
TAT: 7-10 days
price: contact lab
Thrombophilia
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
GeneTech - Hyderabad, India
TAT: 8-10 weeks
price: contact lab
NGS Epilepsy / Seizures Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 1 week
price: contact lab
MTHFR Targeted Mutation Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
MTHFR Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
MTHFR deficiency (C667T mutation)
method(s): ◦ Mutation Scanning of Select Exons 
Cidegen, SL - Salamanca, Spain
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Epileptic Encephalopathy Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Metabolic Epilepsy Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Hereditary Spastic Paraplegias (HSP) and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene)
method(s):
CGC Genetics - Porto, Portugal
Epilepsy and Seizure Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Epilepsy and Seizure Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-9 weeks
price: contact lab
Epileptic encephalopathy (NGS panel for 67 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 1 week
price: contact lab
MTHFR (C677Tand A1298C)
method(s): ◦ Mutation Scanning of Select Exons 
Parseh Pathobiology & Genetics Laboratory - Tehran, Iran, Islamic Republic of
TAT: 8-10 weeks
price: contact lab
Comprehensive Neurogenetics Panel (290 genes)
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
MTHFR
method(s): ◦ Linkage Analysis 
GMDL Genica - Sofia, Bulgaria
MTHFR
method(s): ◦ Linkage Analysis 
GMDL Genica - Sofia, Bulgaria
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 7-10 days
price: contact lab
Methylene Tetrahydrofolate Reductase Mutation C677T by Invader®
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Cedars-Sinai Medical Center, Division of Molecular Pathology - Los Angeles, CA, USA
Thrombotic Risk, DNA Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
MTHFR Deficiency, Sequencing MTHFR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Cobalamin/Homocysteine/Methionine Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 20 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 165 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2 weeks
price: contact lab
MTHFR Full Gene Sequencing Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Neurotransmitter Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 101 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-6 Weeks
price: contact lab
Cobalamin Homocysteine Methionine NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Glaucoma NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
MTHFR
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 106 (Comprehensive Jewish Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
Bleeding Disorders, Panel Massive Sequencing (NGS) 23 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 days
price: contact lab
MTHFR genotyping
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Castle Medical, LLC - Smyrna, GA, USA
TAT: 7-10 days
price: contact lab
Hyperhomocysteinemia: MTHFR gene (C677T and A1298C)
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 12-13 weeks
price: $1,900.00
ExoNIM Plus Epìlepsy
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
TAT: 3-4 weeks
price: contact lab
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Metabolism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 2-3 weeks
price: contact lab
Epileptic Encephalopathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Metabolic Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Organic Acidemia/Aciduria and Cobalamin Deficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: $840.00
Homocystinuria Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Homocystinuria Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Homocystinuria (Homocystinurie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 8-10 weeks
price: contact lab
Developmental regression/dementia/psychosis panel
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 2-4 weeks
price: contact lab
Family Prep Screen
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Counsyl, Inc., Counsyl - South San Francisco, CA, USA
TAT: 1 week
price: contact lab
CEN4GEN rapid carrier screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
CEN4GEN rapid diagnostic screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
CEN4GEN rapid supplemental newborn screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
Homocystinuria due to MTHFR deficiency: Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: $295.00
Comprehensive Pharmacogenetic Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
MedCompGx, LLC - Baton Rouge, LA, USA
TAT: 1 week
price: contact lab
Genelex Polypharmacy Comprehensive Panel
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
Genelex Labs LLC - Seattle, WA, USA
TAT: 2-3 weeks
price: $780.00
Severe MTHFR Deficiency via the MTHFR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $690.00
Severe MTHFR Deficiency via the MTHFR Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,290.00
Disorders of Folate Metabolism and Transport Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $730.00
Disorders of Folate Metabolism and Transport Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Homocystinuria
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany