Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mitochondrial Genome Sequencing and Depletion/Integrity Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 47 | 52 |
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OPA3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics United States | 292 | 253 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Costeff Optic Atrophy Syndrome Myriad Genetics, Inc. United States | 1 | 1 |
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OPA3 - 3-Methylglutaconic aciduria Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
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Anterior Segment Dysgenesis Disorders Panel PreventionGenetics United States | 272 | 278 |
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Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics United States | 106 | 83 |
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Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
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Invitae United States | 17 | 15 |
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Invitae Organic Acidemias Panel Invitae United States | 108 | 97 |
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Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States | 353 | 208 |
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Baylor Genetics United States | 18 | 8 |
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mtDNA Depletion/Integrity Panel (MitomeNGS) Baylor Genetics United States | 22 | 15 |
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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.