XomeDxSlice EB
method(s): ◦ Sequencing, Next Gen
GeneDx - Gaithersburg, MD, USA |
Epidermolysis Bullosa (EBSeq) Panel
method(s): ◦ Sequencing, Next Gen
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
DST Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger)
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Skin Diseases Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Neuromuscular Diseases Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Hereditary peripheral neuropathies including Charcot-Marie-Tooth disease (NGS panel for 74 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
TAT: 3-4 weeks
price: $1,590.00
Epidermolysis Bullosa NGS panel
method(s): ◦ Sequencing, Next Gen
Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks
price: $1,300.00
Epidermolysis Bullosa NGS panel
method(s): ◦ Del/Dup (CNV)
Connective Tissue Gene Tests - Allentown, PA, USA |
Sensory and Autonomic Neuropathies (HSAN) / Pain-channelopathies, NGS-panel
method(s): ◦ Mutation Scanning of Entire Coding Region
University Hospital Jena, Institute of Human Genetics - Jena, Germany |
DST Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV)
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Genetic Epidermolyses and Blistering Disorders Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Charcot-Marie-Tooth and Sensory Neuropathies Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Somatic Tumor Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Epidermolysis bullosa simplex AR (sequence analysis of DST gene)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Epidermolysis bullosa simplex (NGS panel for 4 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Fetal Akinesia, Arthrogryposis, or Contractures (NextGen Sequencing Panel and Copy Number Analysis; 153 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Hereditary Sensory and Autonomic Neuropathy and Hereditary Pain Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 21 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Epidermolysis Bullosa Deletion/duplication panel
method(s): ◦ Del/Dup (CNV)
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Hereditary Sensory Neuropathy Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA |
Peripheral Neuropathy Expanded Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA |
DST
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
TAT: 3-4 weeks
price: $2,740.00
Epidermolysis Bullosa NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 3-5 weeks
price: $1,830.00
Epidermolysis Bullosa and Related Disorders Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks
price: $1,790.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Dysautonomia (Dysautonomie)
method(s): ◦ Sequencing, Next Gen
Praxis fuer Humangenetik Wien - Vienna, Austria |
Epidermolysis bullosa simplex, autosomal recessive
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Centogene AG, Rare Disease Company - Rostock, Germany |
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
Epidermolysis bullosa panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 1-3 weeks
price: $1,500.00
Invitae Hereditary Sensory and Autonomic Neuropathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Neuropathies Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
Charcot-Marie-Tooth Neuropathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Epidermolysis Bullosa Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Charcot-Marie-Tooth Neuropathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Epidermolysis Bullosa Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
