Hyper IgD Syndrome Test method(s): ◦ Sequencing, Capillary (Sanger) bio.logis Center for Human Genetics - Frankfurt am Main, Germany |
Mevalonate kinase (MVK) deficiency Test method(s): ◦ Sequencing, Capillary (Sanger) General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic |
Hyper IgD Syndrome method(s): ◦ Sequencing, Capillary (Sanger) MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany |
Mevalonicaciduria method(s): ◦ Sequencing, Capillary (Sanger) MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany |
Inflammatory Bowel Disease: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Hereditary Periodic Fever Syndromes: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Sanger sequencing of the MVK gene method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Ataxia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
MVK Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany |
MVK Del/Dup method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
MVK Remaining Exons method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
MVK Select Exons method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
Periodic Fever Syndromes Panel (7 genes) method(s): ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Primary Immunodeficiency Gene Panel method(s): ◦ Sequencing, Next Gen All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA |
Hyper IgD and Periodic Fever Syndrome, Sequencing Exons (2,9,11) MVK Gene method(s): ◦ Mutation Scanning of Select Exons Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Hyper IgD and Periodic Fever Syndrome, Sequencing MVK Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Periodic Fever Syndromes Panel, Sequencing (7 Genes) and Deletion/Duplication, (6 Genes) 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 |
Hyper IgD syndrome (sequence analysis of MVK gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
MVK - Hyper IgD syndrome, Mevalonic aciduria method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) Hopital Trousseau - Assistance Publique des Hopitaux de Paris, U.F. de Genetique Moleculaire - Paris, France |
Periodic Fever Panel method(s): ◦ Sequencing, Next Gen All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA |
Hyper IgD Syndrome method(s): ◦ Sequencing, Capillary (Sanger) Burc Molecular Genetics Laboratory - Istanbul, Turkey |
NGS Non-immune Hydrops Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
Severe Recessive Childhood Diseases method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
NewbornDx method(s): ◦ Sequencing, Next Gen Parabase Genomics - Boston, MA, USA |
Single gene testing MVK method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
Early onset Inflammatory Bowel Disease: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Early onset Inflammatory Bowel Disease: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Hereditary Periodic Fever Syndromes: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Autoinflammatory Diseases Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Periodic Fever NGS Panel method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
MVK Gene Sequencing method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
MVK Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
MVK Deletion/duplication analysis method(s): ◦ Del/Dup (CNV) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Coenzyme Q10 Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 12 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Fever Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 36 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Comprehensive Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
MVK method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Periodic Fever Syndrome NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Auto-inflammatory disorders � all subtypes (NGS panel of 18 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Auto-inflammatory disorders - recurrent inflammation (NGS panel of 3 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
TAT: 3-4 weeks price: $690.00
Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,290.00
Periodic Fever Syndromes (PFS) 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
Hyper IgD Syndrome/Mevalonate Aciduria via the MVK 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
Periodic Fever Syndromes Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Mevalonate kinase deficiency: MVK gene method(s): ◦ Sequencing, Capillary (Sanger) GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal |
Periodic Fever 5 Gene NGS Panel method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
Familial Mediterranean Fever/ Periodic Fever (Mittelmeer- /periodisches Fieber) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Mevalonic aciduria method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel, Copy Number Analysis; 330 Genes + mtDNA + HTT Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
TAT: 3-5 weeks price: $2,390.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Porokeratosis type 3, disseminated superficial actinic method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
Abdominal Pain Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Periodic Fever Syndrome Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and HTT Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + FRDA Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and FRDA Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Autoinflammatory Disorders Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
CentoICU Platinum method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 1-3 weeks price: $1,500.00
Invitae Autoinflammatory Syndromes Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Monogenic Inflammatory Bowel Disease Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Periodic Fever Syndromes Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
Periodic fever syndrome panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Microcephaly (NextGen Sequencing Panel and Copy Number Analysis; 241 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Autoinflammatory Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Primary Immunodeficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Retinal Dystrophy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Retinitis Pigmentosa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Autoinflammatory Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Primary Immunodeficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Retinal Dystrophy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Retinitis Pigmentosa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Eye Diseases Comprehensive Panel method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
Hereditary Systemic Autoinflammatory Diseases, Panel Massive Sequencing (NGS) 6 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |