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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Skeletal dysplasia core & extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
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Skeletal dysplasia core & extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
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Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 203 | 152 |
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Achondrogenesis Type 1A via the TRIP11 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
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Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain | 83 | 27 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Achondrogenesis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 3 | 3 |
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Potentially lethal skeletal disorders Panel CeGaT GmbH Germany | 45 | 44 |
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Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 48 | 47 |
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Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 48 | 47 |
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Fulgent Genetics United States | 1 | 1 |
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Fulgent Genetics United States | 543 | 178 |
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Fulgent Genetics United States | 5128 | 4672 |
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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.