Hereditary Neuropathies: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
NGS of 3 genes: FXN, MTP, TTPA. method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 30 genes: ADCK3, AFG3L2, ANO10, APTX, BEAN, CACNA1A, CACNB4, FGF14, FXN, IFRD1, ITPR1, KCNA1, KCNC3, MTP, MTPAP, PDYN, PIK3R5, PLEKHG4, PRKCG, SACS, SETX, SLC1A3, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TTBK2, TTPA, ZNF592 method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Ataxia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
MTTP Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany |
Abetalipoproteinemia , Sequencing MTTP Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Abetalipoproteinemia method(s): ◦ Genotyping (Microarray, Beads, etc.) Recombine - Livingston, NJ, 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 |
Gedi-R, Genetic Eye Disease Panel for Retinal Genes method(s): ◦ Sequencing, Next Gen Ocular Genomics Institute Genetic Diagnostic Laboratory at Massachusetts Eye and Ear Infirmary - Boston, MA, USA |
Severe Recessive Childhood Diseases method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Ataxia and Differential Diagnoses Panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
MTTP Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany |
Hereditary ataxias (NGS panel for 37 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Single gene testing MTTP method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
Eye Disorders: Comprehensive Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Eye Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Hereditary Neuropathies: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Hereditary Neuropathies: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Hypercholesterolemia: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Familial Hypobetalipoproteinemia, Panel Massive Sequencing (NGS) 4 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Inheritest NGS, Ashkenazi Jewish Ancestry Panel method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, 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 |
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 |
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 |
Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy (NextGen Sequencing Panel and Copy Number Analysis; 62 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Eye Disorders NGS Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA |
MTTP method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Horizon 106 (Comprehensive Jewish Panel) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Natera, Inc. - San Carlos, CA, USA |
Horizon 274 (Pan-Ethnic Extended Panel) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Natera, Inc. - San Carlos, CA, USA |
Abetalipoproteinemia method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA |
Horizon 137 (Pan-Ethnic Intermediate Panel) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Natera, Inc. - San Carlos, CA, USA |
Abetalipoproteinemia 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 |
TAT: 12-16 weeks price: $1,880.00
Analysis Dyslipidemia Genes (NGS panel 29 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - 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 |
TAT: ~2 weeks price: $1,500.00
Abetalipoproteinemia (MTTP Sequencing) method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen EvolveGene - St. Petersburg, FL, USA |
Ataxia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Ataxia 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 |
GeneAware Complete Panel Version 2 (Female) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |
GeneAware Complete Panel Version 2 (Male) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |
GeneAware Ashkenazi Jewish Panel Version 2 (Female) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |
GeneAware Ashkenazi Jewish Panel Version 2 (Male) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |