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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Hydrops fetalis panel for lysosomal disorders Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 23 | 7 |
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Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 58 | 18 |
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GLB1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
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Carrier Screening Guidelines-Based Panel Ambry Genetics United States | 199 | 164 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
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Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 404 | 241 |
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Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 351 | 249 |
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Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 405 | 219 |
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Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
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Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
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Mucopolysaccharidosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Mucopolysaccharidosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Mucopolysaccharidosis NGS panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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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 Metabolic Non-Immune Fetal Hydrops Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 50 | 51 |
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Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 247 | 163 |
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Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
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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.