HEPACAM -Related Megalencelphalic Leukoencephalopathy with Subcortical Cysts Test method(s): ◦ Sequencing, Capillary (Sanger) Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA |
Ataxia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
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 |
Brain Development Disorders Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Epilepsy Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Macrocephaly Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Megalencephalic Leukencephalopathy with Subcortical Cysts Test method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A: HEPACAM gene sequence method(s): ◦ Sequencing, Capillary (Sanger) GENETAQ, Molecular Genetics Centre - Malaga, Spain |
Macrocephaly Deletion/Duplication panel method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Brain Malformations / Neuronal Migration Disorders method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Macrocephaly method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Syndromic Disorders method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Macrocephaly Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Leukodystrophy / Leukencephalopathy Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Hereditary Degenerative Syndromes Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Macrocephaly (NGS panel for 16 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Megalencephalic leukoencephalopathy with subcortical cysts (sequence analysis of HEPACAM gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
Leukodystrophies, Panel Massive Sequencing (NGS) 58 genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Megalencephalic Leukoencephalopathy with Subcortical Cysts Type 2A, Sequencing HEPACAM Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
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 |
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 |
Comprehensive Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 104 Genes + mtDNA) 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 |
Macrocephaly and Overgrowth Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 114 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Non-Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 53 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Macrocephaly, Panel Massive Sequencing (NGS) 16 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
HEPACAM method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Intellectual Disability NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Leukoencephalopathy 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
Megalencephalic Leukoencephalopathy with Subcortical Cysts via the HEPACAM Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 2-3 weeks price: $650.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts via the HEPACAM Gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Leukoencephalopathy (Leukenzephalopathie) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Metachromatic Leukodystrophy (Metachromatische Leukodystrophie) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Megalencephalic leukoencephalopathy with subcortical cysts 2A method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 3-5 weeks price: $1,340.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $730.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
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 |
HEPACAM - Gene sequencing method(s): ◦ Sequencing, Capillary (Sanger) VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands |
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 |
Dystonia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Leukodystrophy and peroxisome biogenesis disorders panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Comprehensive Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Epileptic Encephalopathy Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Blueprint Genetics, Helsinki - Helsinki, Finland |
Leukodystrophy and Leukoencephalopathy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Macrocephaly / Overgrowth Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Epileptic Encephalopathy Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Leukodystrophy and Leukoencephalopathy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Macrocephaly / Overgrowth Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |