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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Invitae United States | 24 | 8 |
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CACNA1S - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 |
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Invitae United States | 409 | 164 |
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Invitae 78 Gene Actionable Disorders Panel Invitae United States | 220 | 75 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
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Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 106 | 83 |
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Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 183 | 142 |
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Malignant Hyperthermia Susceptibility Panel PreventionGenetics, part of Exact Sciences United States | 5 | 3 |
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Periodic paralysis panel. Panel NGS genes: CACNA1S, CLCN1, KCNJ2, SCN4A. Genologica Medica Spain | 13 | 4 |
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Genologica Medica Spain | 172 | 59 |
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CACNA1S Full Gene Sequencing Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States | 3 | 1 |
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Malignant Hyperthermia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 4 | 2 |
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Asper Biogene Asper Biogene LLC Estonia | 7 | 3 |
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Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
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Fulgent Genetics United States | 186 | 61 |
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Malignant Hyperthermia Susceptibility NGS Panel Fulgent Genetics United States | 6 | 2 |
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ACMG Secondary Findings (Medically Actionable Genes, Including Cardio and Cancer) NGS Panel Fulgent Genetics United States | 177 | 59 |
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Hypokalemic and Hyperkalemic Periodic Paralysis NGS Panel Fulgent Genetics United States | 14 | 5 |
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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.