NPC1

Locus: 18q11.2

Protein: Niemann-Pick C1 protein

Disorders

Niemann-Pick Disease Type C1

Tests


TAT: 4-8 weeks price: $1,240.00 Analysis NPC1 gene (Niemann-Pick Disease, type C) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: contact lab price: contact lab Niemann-Pick Disease Type C1 (NPC1)Test method(s): ◦ Sequencing, Capillary (Sanger) General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
TAT: contact lab price: contact lab Niemann-Pick disease typeC test method(s): ◦ Sequencing, Capillary (Sanger) Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 4-5 weeks price: contact lab Niemann-Pick Disease Type C, NPC1 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks price: contact lab Niemann-Pick Disease Type C, NPC1 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks price: contact lab Niemann-Pick Disease Type C, NPC1 Prenatal Sequenc method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks price: contact lab Niemann-Pick Genetic Test (NPC1 Gene) method(s): ◦ Sequencing, Capillary (Sanger) Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 4-5 weeks price: contact lab Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks price: contact lab Lysosomal Storage Disorders: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-4 weeks price: contact lab Neonatal and Adult Cholestasis: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks price: contact lab Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Deletion/Duplication method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: contact lab price: contact lab Niemann-Pick Type C, Full Gene Analysis method(s): ◦ Sequencing, Capillary (Sanger) Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 8-10 weeks price: contact lab Ataxia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, 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: 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
TAT: 3-4 weeks price: contact lab NPC1 Del/Dup method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks price: contact lab NPC1 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks price: contact lab NPC1/NPC2 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA
TAT: 7-10 days price: contact lab Niemann-Pick Disease: Type C1 method(s): ◦ Genotyping (Microarray, Beads, etc.) Recombine - Livingston, NJ, USA
TAT: contact lab price: contact lab Niemann-Pick Disease Type C1 , Sequencing NPC1 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab price: contact lab 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
TAT: contact lab price: contact lab Neurodegenerative Diseases Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: contact lab price: contact lab Metabolic Diseases Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: contact lab price: contact lab Epilepsy Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: contact lab price: contact lab Niemann-Pick disease type C1 (sequence analysis of NPC1 gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: contact lab price: contact lab Niemann-Pick Disease Type C1, Deletions-Duplications (MLPA) NPC1 Gene method(s): ◦ Del/Dup (CNV) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks price: contact lab LysoSEEK - Lysosomal Storage Disease Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, 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: 8-10 weeks price: contact lab NGS Lysosomal Storage Disease Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 8-10 weeks price: contact lab NGS Non-immune Hydrops Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 3-5 weeks price: contact lab Epileptic Encephalopathy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks price: contact lab Progressive Myoclonic Epilepsy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks price: contact lab Epilepsy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-5 weeks price: contact lab Epilepsy and Mitochondrial Encephalopathy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
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 Lysosomal Disorders Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks price: contact lab Hereditary Degenerative Syndromes Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks price: contact lab Dystonia All Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks price: contact lab Ataxia and Differential Diagnoses Panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks price: contact lab Leukodystrophy / Leukencephalopathy 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: contact lab price: contact lab Niemann-Pick disease (sequence analysis of NPC1 and NPC2 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: contact lab price: contact lab Niemann-Pick disease (deletion/duplication analysis of NPC1, NPC2 and SMPD genes) method(s): ◦ Del/Dup (CNV) CGC Genetics - Porto, Portugal
TAT: 2-4 weeks price: contact lab Single gene testing NPC1 method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Inherited Metabolic Disorders: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Inherited Metabolic Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Pan-Ethnic Carrier Screen: Gene Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Pan-Ethnic Carrier Screen: Targeted Mutation Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Neonatal and Adult Cholestasis: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Neonatal and Adult Cholestasis: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Deletion/Duplication method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Lysosomal Storage Disorders: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Lysosomal Storage 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 Dystonia (NGS panel for 43 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: 8-10 weeks price: contact lab Comprehensive Neurogenetics Panel (290 genes) method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: contact lab price: contact lab NPC1 Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GMDL Genica - Sofia, Bulgaria
TAT: contact lab price: contact lab NPC1 and NPC2 Deletions/Duplications method(s): ◦ Del/Dup (CNV) 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: contact lab price: contact lab Niemann-Pick Disease Type C, NPC1-Related (NPC1) method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: contact lab price: contact lab 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
TAT: contact lab price: contact lab 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
TAT: contact lab price: contact lab Storage and Energetic Metabolism Diseases, Panel Massive Sequencing (NGS) 84 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks price: contact lab 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
TAT: 2-4 weeks price: contact lab Comprehensive Dementia (NextGen Sequencing Panel and Copy Number Analysis; 91 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 Dementia (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 91 genes) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ 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; 502 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Parkinson disease/Parkinsonism (NextGen Sequencing Panel and Copy Number Analysis; 75 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 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
TAT: 2-4 weeks price: contact lab Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Lysosomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 72 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, 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: 4-6 Weeks price: contact lab Lysosomal Disorders 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 NPC1 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 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: 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 weeks price: contact lab Horizon 137 (Pan-Ethnic Intermediate 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 Niemann-Pick Disease Type C via the NPC1 Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks price: $730.00 Niemann-Pick Disease Type C 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: $990.00 Niemann-Pick Disease Type C via the NPC1 Gene method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks price: $1,440.00 Niemann-Pick Disease Type C Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: contact lab price: contact lab Niemann Pick disease (Niemann-Pick-Krankheit) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: contact lab price: contact lab Niemann Pick disease (Niemann-Pick-Krankheit) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: contact lab price: contact lab Niemann-Pick disease (Niemann-Pick-Krankheit) method(s): ◦ Sequencing, Capillary (Sanger) Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 8-10 weeks price: contact lab Progressive and non-progressive ataxia method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 8-10 weeks price: contact lab Dystonia panel method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 8-10 weeks price: contact lab Developmental regression/dementia/psychosis panel method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: ~2 weeks price: contact lab Niemann-Pick disease type C1 method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany
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 Niemann-Pick disease, type C1: Full gene sequencing (Rapid testing) method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week price: contact lab Niemann-Pick disease, type D: Full gene sequencing (Rapid testing) method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-4 weeks price: contact lab 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: 2-4 weeks price: contact lab Comprehensive Dementia (NextGen Sequencing Panel, Copy Number Analysis, and HTT Repeat Expansion Analysis; 91 genes) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Comprehensive Dementia (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 + HTT Repeat Expansion Analysis; 91 genes) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Ashkenazi Jewish Carrier Screening method(s): ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Pan-European Carrier Screening method(s): ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: contact lab price: contact lab Peroxisomal and Lysosomal Diseases, Panel Massive Sequencing (NGS) 80 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks price: contact lab Lysosomal storage disorders panels method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Lysosomal Storage Disease Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 4-6 weeks price: contact lab Treatable Seizures Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 10 weeks price: contact lab NGS panel - dementia/ALS method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 2-4 weeks price: contact lab 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
TAT: contact lab price: contact lab Niemann-Pick Disease Type C, Panel Massive Sequencing (NGS) NPC1, NPC2 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks price: contact lab 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
TAT: 2-4 weeks price: contact lab 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
TAT: 2-3 weeks price: contact lab CentoICU Platinum method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 6-8 weeks price: contact lab Dystonia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2-3 days 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: 1-3 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 Comprehensive Lysosomal Storage Disorders Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
TAT: 1-3 weeks price: $1,500.00 Invitae Niemann-Pick Disease Type C Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Cholestasis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Comprehensive Metabolism Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Lysosomal Disorders and Mucopolysaccharidosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Cholestasis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Comprehensive Metabolism Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Lysosomal Disorders and Mucopolysaccharidosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 2 weeks price: contact lab GeneAware Complete Panel Version 2 (Female) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks price: contact lab GeneAware Complete Panel Version 2 (Male) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA

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