Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Mayo Clinic Laboratories Mayo Clinic United States | 2 | 2 |
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Mayo Clinic Laboratories Mayo Clinic United States | 2 | 2 |
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Mayo Clinic Laboratories Mayo Clinic United States | 10 | 10 |
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Mayo Clinic Laboratories Mayo Clinic United States | 11 | 10 |
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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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Urine GAG study for MPS (Qualitative and Quantitative) Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 8 | 1 |
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Lysosomal storage disorder by enzyme study from amniotic fluid and CVS Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 24 | 22 |
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Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 7 | 6 |
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Cherry red spot and Neuroregression panel Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 7 | 6 |
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Mucopolysaccharide enzyme panel Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 8 | 8 |
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Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 1 | 1 |
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Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
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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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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.