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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
ATP6V1E1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany | 75 | 76 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 92 |
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Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 253 | 189 |
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Cutis laxa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
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Cutis laxa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
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HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
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qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
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Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
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Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
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Cutis laxa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
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HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
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Cutis laxa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
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Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 203 | 152 |
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Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States | 99 | 65 |
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Connective Tissue Disorders Panel Baylor Genetics United States | 1 | 92 |
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CGC Genetics Unilabs Portugal | 1 | 277 |
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Integrated Genetics Westborough LabCorp United States | 330 | 746 |
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Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States | 292 | 746 |
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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.