NHLRC1

Synonym(s): bA204B7.2, EPM2B, malin

Locus: 6p22.3

Protein: NHL repeat-containing protein 1

Disorders

Tests


TAT: 2-3 weeks price: contact lab Lafora Disease (NHLRC1 Gene Sequence Analysis) method(s): ◦ Sequencing, Capillary (Sanger) Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
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: 12-13 weeks price: contact lab Neurology: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 5-6 weeks price: contact lab Sanger sequencing of the NHLRC1 gene method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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 weeks price: contact lab Childhood-Onset Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA
TAT: 4 weeks price: contact lab Comprehensive Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA
TAT: 4 weeks price: contact lab Progressive Myoclonic Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA
TAT: contact lab price: contact lab Progressive Myoclonic Epilepsy Type 2B (Lafora Type), Sequencing NHLRC1 (EPM2B) 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 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 Familial Epilepsy and Related Disorders, Panel Massive Sequencing (NGS) 35 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks price: contact lab NHLRC1 method(s): ◦ Sequencing, Next Gen Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark
TAT: 2-4 weeks price: contact lab Progressive Myoclonic Epilepsy Panel method(s): ◦ Sequencing, Next Gen Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark
TAT: contact lab price: contact lab Progressive Myoclonic Epilepsy (EPM2B (NHLRC1)) method(s): ◦ Sequencing, Capillary (Sanger) GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: contact lab price: contact lab Dravet Syndrome and Myoclonic Epilepsy method(s): ◦ Sequencing, Next Gen GENETAQ, Molecular Genetics Centre - Malaga, Spain
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: contact lab price: contact lab Epilepsy method(s): ◦ Sequencing, Next Gen Merseyside & Cheshire Regional Genetics Laboratory - Liverpool, United Kingdom
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: 3-5 weeks price: contact lab Brain Malformations / Neuronal Migration Disorders 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: contact lab price: contact lab NHLRC1 method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks price: contact lab Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy 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 epiSEEK Focus method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 7-10 days price: contact lab NewbornDx method(s): ◦ Sequencing, Next Gen Parabase Genomics - Boston, MA, USA
TAT: contact lab price: contact lab Epilepsy, progressive myoclonic 2B (Lafora) (sequence analysis of NHLRC1 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal
TAT: 2-4 weeks price: contact lab Single gene testing NHLRC1 method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Epilepsy and Seizure 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 Epilepsy and Seizure Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Neurology: 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 Neurology: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-10 weeks price: contact lab Comprehensive Neurogenetics Panel (290 genes) method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 5-7 weeks price: contact lab EpilepsyNext method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 4-6 weeks price: contact lab PMEFirst - Progressive Myoclonus Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 5-7 weeks price: contact lab PMENext - Progressive Myoclonus Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
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: 8-10 weeks price: contact lab Neurodevelopment -Expanded method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, 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 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: 4-5 Weeks price: contact lab NHLRC1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, 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: 3-4 weeks price: contact lab Early Onset Epileptic Encephalopathy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks price: contact lab Idiopathic Generalized Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA
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: $690.00 Lafora Disease via the NHLRC1 Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks price: $1,670.00 Early Infantile Epileptic Encephalopathy Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks price: $1,670.00 Early Infantile Epileptic Encephalopathy, Recessive 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: $540.00 Lafora Disease via the NHLRC1 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 Early Infantile Epileptic Encephalopathy Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks price: $1,290.00 Early Infantile Epileptic Encephalopathy, Recessive 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 Epilepsy method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: contact lab price: contact lab Epilepsy, progressive myoclonic type II/ Lafora (progressive myoklonus-Epilepsie Typ 2/Lafora) method(s): ◦ Sequencing, Capillary (Sanger) Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: contact lab price: contact lab Epilepsy, progressive myoclonic (progressive Myoklonusepilepsien) 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: 5-7 weeks price: contact lab CustomNext - Epilepsy method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-4 weeks price: contact lab Myoclonic Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 93 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: ~2 weeks price: contact lab Myoclonic epilepsy of Lafora method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: contact lab price: contact lab Glycogen 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 Myoclonic A (Progressive) Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, 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: 7-8 weeks price: contact lab Comprehensive epilepsy panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks price: $1,500.00 Invitae Epilepsy Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
TAT: 4-5 weeks price: contact lab Myoclonic epilepsy panel method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks price: contact lab Comprehensive Epilepsy 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 Glycogen Storage Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab NCL and Progressive Myoclonic Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Comprehensive Epilepsy 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 Glycogen Storage Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab NCL and Progressive Myoclonic Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA

GeneTests

NHLRC1

Disorders

Tests

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Test Method

Prenatal/Carrier

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