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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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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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ELN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 92 |
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Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States | 346 | 160 |
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Marfan Syndrome and Related Aortopathies Panel PreventionGenetics, part of Exact Sciences United States | 40 | 38 |
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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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Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
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Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 124 | 69 |
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Cutis laxa, autosomal dominant 1 Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
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Cutis laxa, autosomal dominant 1 NGS Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
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Cutis laxa, autosomal dominant 1 Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
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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 Heart Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 107 | 55 |
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Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States | 99 | 65 |
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Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene PreventionGenetics, part of Exact Sciences United States | 2 | 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.