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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
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Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
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Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
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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 Hypophosphatemia Panel Invitae United States | 23 | 17 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
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PreventionGenetics, part of Exact Sciences United States | 3 | 1 |
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Cystinosis via the CTNS gene, 57-kb Deletion PreventionGenetics, part of Exact Sciences United States | 3 | 1 |
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Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain | 175 | 102 |
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Cystinosis: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 4 | 1 |
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Duzen Laboratories Duzen BBAGUAS Turkey | 4 | 1 |
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Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
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Cystinosis (CTNS Single Gene Test) Fulgent Genetics United States | 3 | 1 |
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Abnormal Mineralization NGS Panel Fulgent Genetics United States | 77 | 30 |
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Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States | 716 | 335 |
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Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States | 636 | 298 |
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Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States | 661 | 306 |
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Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States | 690 | 326 |
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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.