OtoGenome™ Test for Hearing Loss and Related Syndromes (87 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA |
HARS2 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger)
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
HARS2 Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger)
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
HARS2 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger)
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
HARS2 Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV)
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
HARS2 Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Hearing Loss: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Comprehensive Mitochondrial Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
GeneDx - Gaithersburg, MD, USA |
Combined Mito Genome Plus Mito 139 Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
GeneDx - Gaithersburg, MD, USA |
Mitochondrial Disorders Multi-Gene Panel (Nuclear Genes)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
TAT: 12-16 weeks
price: $1,500.00
OtoSCOPE
method(s): ◦ Sequencing, Next Gen
University of Iowa Hospital and Clinics, Molecular Otolaryngology and Renal Research Laboratories - Iowa City, IA, USA |
Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
Mitochondrial Disorders Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Perrault syndrome 2 (PRLTS2, sequence analysis of HARS2 gene)
method(s): ◦ Sequencing, Capillary (Sanger)
CGC Genetics - Porto, Portugal |
Perrault Syndrome Type 2, Sequencing HARS2 Gene
method(s): ◦ Sequencing, Capillary (Sanger)
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Mitochondrial Deafness
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Mitochondrial Diseases
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
nucSEEK Focus
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Eye Disorders: Comprehensive Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
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 Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 431 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Cellular Energetics Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 22 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 55 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Oxidative Phosphorylation (OXPHOS) Defects (NextGen Sequencing Panel and Copy Number Analysis; 232 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Spastic Paraplegia (NextGen Sequencing Panel and Copy Number Analysis; 130 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Perrault Syndrome, Panel Massive Sequencing (NGS) 5 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
HARS2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
Nuclear-Mito NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
NGS Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
TAT: 3-4 weeks
price: $690.00
Perrault Syndrome Type 2 via the HARS2 Gene
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 2-3 weeks
price: $780.00
Perrault Syndrome Type 2 via the HARS2 Gene
method(s): ◦ Sequencing, Capillary (Sanger)
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 |
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 |
CentoMito™ Comprehensive
method(s): ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
Mitochondrial Nuclear Gene Panel by Next Generation Sequencing (NGS)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, 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 |
