Filters
Tests names and labs | Conditions | Genes and analytes | Methods |
---|---|---|---|
Centogene AG - the Rare Disease Company Germany | 769 | 514 |
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Centogene AG - the Rare Disease Company Germany | 769 | 514 |
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Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute United States | 2 | 1 |
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Centogene AG - the Rare Disease Company Germany | 786 | 1205 |
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Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection PreventionGenetics United States | 147 | 153 |
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Epilepsy Panel - Comprehensive Molecular Genetics Laboratory London Health Sciences Centre Canada | 69 | 69 |
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Pyridoxine-Dependent Epilepsy via the ALDH7A1 Gene PreventionGenetics United States | 1 | 1 |
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Early Infantile Epileptic Encephalopathy Sequencing Panel PreventionGenetics United States | 84 | 82 |
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Instituto de Medicina Genomica Spain | 1 | 1 |
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ALDH7A1. Detection of the mutation p.Glu399Gln by sequencing Instituto de Medicina Genomica Spain | 1 | 1 |
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ALDH7A1 Sequence Analysis (Prenatal Diagnosis) Baylor Miraca Genetics Laboratories United States | 1 | 1 |
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ALDH7A1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Miraca Genetics Laboratories United States | 1 | 1 |
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Baylor Miraca Genetics Laboratories United States | 1 | 1 |
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Baylor Miraca Genetics Laboratories United States | 845 | 637 |
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Pyridoxine-Dependent Seizures Panel - Plasma Baylor Miraca Genetics Laboratories United States | 2 | 3 |
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Pyridoxine-Dependent Seizures Panel - Cerebrospinal Fluid Baylor Miraca Genetics Laboratories United States | 2 | 3 |
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Pyridoxine-Dependent Epilepsy - ALDH7A1 Del/Dup Analysis Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado United States | 1 | 1 |
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Pyridoxine-Dependent Epilepsy - ALDH7A1 Sequencing Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado United States | 1 | 1 |
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NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Netherlands | 41 | 60 |
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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.