Methylmalonyl-CoA mutase (MUT) deficiency Test method(s): ◦ Sequencing, Capillary (Sanger) General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic |
Methylmalonic acidemia test method(s): ◦ Sequencing, Capillary (Sanger) Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of |
MUT Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
MUT KFM Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
MUT Prenatal Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
MUT Deletion/Duplication Analysis method(s): ◦ Del/Dup (CNV) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
MUT Sequence and Deletion/Duplication Analysis method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Methylmalonic Acidemia Panel Del/Dup Analysis method(s): ◦ Del/Dup (CNV) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Methylmalonic Acidemia Panel Sequence and Del/Dup method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Methylmalonic Acidemia Panel - Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Methylmalonic Acid - Plasma method(s): ◦ Quantitative Biochemical Analysis Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Methylmalonic Aciduria Genetic Test (MUT Gene) method(s): ◦ Sequencing, Capillary (Sanger) Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey |
Methylmalonic Aciduria: MUT Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Methylmalonic Aciduria: MUT Gene Deletion/Duplication method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
MUTYH-Associated Polyposis: MUTYH Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Sanger sequencing of the MUT gene method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Paediatric Cardiomyopathy NGS Panel method(s): ◦ Sequencing, Next Gen Bristol Genetics Laboratory - Bristol, United Kingdom |
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
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 |
MUT Del/Dup method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
MUT Exon 2 Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
MUT Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
MUT Remaining Exons Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel method(s): ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Reflex Del/Dup Testing after Hyperammonemia Panel method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel method(s): ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Reflex Del/Dup Testing After MMA and Related Disorders Panel method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
Cobalamin Metabolism Panel (MitomeNGS) method(s): ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Methylmalonic Acidemia: MUT Related method(s): ◦ Genotyping (Microarray, Beads, etc.) Recombine - Livingston, NJ, USA |
Methylmalonic Acidemia , Sequencing MUT Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Inherited Disease Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Mitochondrial Disorders 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 |
Methylmalonic aciduria (sequence analysis of MUT gene) 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 |
Methylmalonic Acidemia: MUT gene sequence analysis method(s): ◦ Sequencing, Capillary (Sanger) GENETAQ, Molecular Genetics Centre - Malaga, Spain |
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 |
Methylmalonic Acidemia , Panel Massive Sequencing (NGS) 7 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Organic Acidemias, Panel Massive Sequencing (NGS) 15 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Severe Recessive Childhood Diseases method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
nucSEEK Focus method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
NewbornDx method(s): ◦ Sequencing, Next Gen Parabase Genomics - Boston, MA, USA |
Methylmalonic aciduria (NGS panel for 15 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Inherited Metabolic Disorders: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Inherited Metabolic Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Pan-Ethnic Carrier Screen: Gene Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Pan-Ethnic Carrier Screen: Targeted Mutation Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Methylmalonic Aciduria: MUT Gene Deletion/Duplication method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Methylmalonic Aciduria: MUT Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
MUT Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
MUT Deletion/duplication analysis method(s): ◦ Del/Dup (CNV) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Comprehensive Neurogenetics Panel (290 genes) method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada |
Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Methylmalonic Acidemia, MUT-Related (MUT) method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA |
Pan-Ethnic Carrier Screen: Mutation and SMA Analysis method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
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 |
Leigh Disease (NextGen Sequencing Panel and Copy Number Analysis; 75 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Methylmalonic Acid Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy (NextGen Sequencing Panel and Copy Number Analysis; 62 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Cobalamin Homocysteine Methionine NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Methylmalonic Acid Metabolism NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
MUT method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Nuclear-Mito NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Horizon 274 (Pan-Ethnic Extended Panel) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Natera, Inc. - San Carlos, CA, USA |
TAT: 3-4 weeks price: $690.00
Methylmalonic Acidemia via the MUT Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $840.00
Methylmalonic Acidemia Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 2-3 weeks price: $780.00
Methylmalonic Acidemia via the MUT Gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,440.00
Methylmalonic Acidemia Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Episodic ataxia method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada |
Developmental regression/dementia/psychosis panel method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |
CEN4GEN rapid carrier screen: Full gene sequencing panel method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
CEN4GEN rapid diagnostic screen: Full gene sequencing panel method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Methylmalonic aciduria due to Methylmalonyl-CoA Mutase deficiency: Full gene sequencing (Rapid testing) method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Pan-European Carrier Screening method(s): ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
CentoICU Platinum method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Dystonia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
CentoMito™ Comprehensive method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 3-5 weeks price: $1,690.00
Hyperammonemia Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,670.00
Hyperammonemia 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: $1,490.00
Organic Aciduria Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,290.00
Organic Aciduria Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
CEN4GEN Rapid supplemental newborn screen: Full gene sequencing panel method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
TAT: 1-3 weeks price: $1,500.00
Invitae Organic Acidemias Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Metabolic Disorders Newborn Screening Confirmation Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Elevated C3 Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Treatable Neurometabolic Disorders Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Methylmalonic Acidemia Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
Methylmalonic acidemia panel (advanced) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Methylmalonic acidemia panel (basic) method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Comprehensive Metabolism Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Hyperammonemia and Urea Cycle Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Organic Acidemia/Aciduria and Cobalamin Deficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Metabolism Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Hyperammonemia and Urea Cycle Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Organic Acidemia/Aciduria and Cobalamin Deficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
TAT: 3-5 weeks price: $1,590.00
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,290.00
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Stroke (NextGen Sequencing Panel and Copy Number Analysis; 29 Genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |