Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
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Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Desbuquois dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 4 |
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Desbuquois dysplasia core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 4 |
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Desbuquois dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 4 |
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Desbuquois dysplasia and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
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Desbuquois dysplasia and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
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Desbuquois dysplasia and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
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Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 203 | 152 |
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Baylor Genetics United States | 1 | 354 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Hereditary ataxias panel_v.2.0 CGC Genetics Unilabs Portugal | 1 | 427 |
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CGC Genetics Unilabs Portugal | 1 | 837 |
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Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
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CGC Genetics Unilabs Portugal | 1 | 1307 |
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Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 231 |
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CGC Genetics Unilabs Portugal | 1 | 662 |
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Desbuquois syndrome (sequence analysis of XYLT1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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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.