HADH Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
MetaboSeq Fatty Acid Oxidation Disorders Panel method(s): ◦ Sequencing, Next Gen Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
HADH Gene Sequencing by NGS method(s): ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |
HADH Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany |
Hyperinsulinemic Hypoglycemia: HADH Gene Deletion/Duplication method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Hyperinsulinemic Hypoglycemia: HADH Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Neonatal Diabetes/MODY Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Comprehensive Familial Hyperinsulinism panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
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 |
HADH Del/Dup method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
HADH Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
HADH Deletion/duplication analysis method(s): ◦ Del/Dup (CNV) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
HADH Gene Sequencing and Del/Dup method(s): ◦ Sequencing, Next Gen Odense University Hospital, Department of Clinical Genetics - Odense, Denmark |
HADH Gene Sequencing and Del/Dup method(s): ◦ Sequencing, Next Gen Odense University Hospital, Department of Clinical Genetics - Odense, Denmark |
Mitochondrial Disorders Multi-Gene Panel (Nuclear Genes) method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
MetaboSeq Fatty Acid Oxidation Disorders Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
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 |
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 |
NGS Non-immune Hydrops Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
Epileptic Encephalopathy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Epilepsy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Muscle Weakness (Myopathy, Muscular Dystrophy) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Epilepsy and Mitochondrial Encephalopathy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Severe Recessive Childhood Diseases method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
HADH method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Metabolic Epilepsy Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Metabolic Myopathies Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
NewbornDx method(s): ◦ Sequencing, Next Gen Parabase Genomics - Boston, MA, USA |
Endocrine Disorders: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Endocrine Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Hyperinsulinemic Hypoglycemia: HADH Gene Deletion/Duplication method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Hyperinsulinemic Hypoglycemia: HADH Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Hyperinsulinemic Hypoglycemia, Acute method(s): ◦ Sequencing, Next Gen Odense University Hospital, Department of Clinical Genetics - Odense, Denmark |
Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Hyperinsulinism-Hyperammonemia Syndrome, Panel Massive Sequencing (NGS) 12 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Fatty Acid Oxidation Related Disorders, Panel Massive Sequencing (NGS) 19 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Familial Hypoglycemia Hyperinsulinemia, Panel Massive Sequencing (NGS) 7 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 431 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Comprehensive Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 502 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Epileptic Encephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 122 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Nonsyndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 191 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 734 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Lipid Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 71 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Fatty Acid Oxidation Deficiency NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
HADH method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Hyperinsulinism NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
MODY Neonatal Diabetes NGS Panel 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 |
TAT: 3-4 weeks price: $690.00
3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH 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
Congenital Hyperinsulinism 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
3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,490.00
Congenital Hyperinsulinism Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
CoA-3-hydroxyacyl dehydrogenase 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 |
TAT: 4-6 weeks price: $3,000.00
Congenital Hyperinsulinism Panel: Level 2 (ABCC8, KCNJ11, GLUD1, GCK, SLC16A1, UCP2, HNF1A, HNF4A, HADH) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA |
3-hydroxyacyl-CoA dehydrogenase deficiency: Full gene sequencing (Rapid testing) method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Familial hyperinsulinemic hypoglycemia type 4: Full gene sequencing (Rapid testing) method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Familial Hyperinsulinism NGS Panel method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
HADH Gene Sequencing method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
Familial Hyperinsulinism, NGS panel method(s): ◦ Sequencing, Next Gen IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
Actionable Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 70 genes) method(s): ◦ Del/Dup (CNV) ◦ 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 |
CentoMito™ Comprehensive method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
CEN4GEN Rapid supplemental newborn screen: Full gene sequencing panel method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Fatty acid oxidation disorder panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Congenital Hyperinsulinism Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, 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 C4-OH Test method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Fatty Acid Oxidation Defects Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
Hyperinsulinemic hypoglycemia panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 3-5 weeks price: $1,790.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance 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
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance 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
Disorders of Fatty Acid Oxidation 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 of Fatty Acid Oxidation Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Comprehensive Metabolism Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Monogenic Diabetes Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Fatty Acid Oxidation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Hypoglycemia, Hyperinsulinism and Ketone Metabolism 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 |
Comprehensive Monogenic Diabetes Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Fatty Acid Oxidation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |