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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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Arrhythmogenic right ventricular dysplasia 10 (ARVD10, sequence analysis of DSG2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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GGCX - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Centogene AG - the Rare Disease Company Germany | 110 | 112 |
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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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Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
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Pseudoxanthoma elasticum NGS panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 2 |
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Pseudoxanthoma elasticum Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 2 |
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Pseudoxanthoma elasticum Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 2 |
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Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands | 2 | 1 |
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Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States | 99 | 65 |
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PreventionGenetics, part of Exact Sciences United States | 78 | 79 |
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Coagulation Factor Deficiency Panel PreventionGenetics, part of Exact Sciences United States | 21 | 20 |
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Clotting factor deficiency panel. 16-gene NGS panel. Genologica Medica Spain | 29 | 16 |
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Elastic pseudoxanthoma. Panel NGS genes: ABCC6, GGCX, XYLT1, XYLT2. Genologica Medica Spain | 7 | 4 |
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Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain | 96 | 62 |
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Comprehensive Bleeding Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States | 80 | 50 |
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GGCX Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 2 | 1 |
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Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States | 146 | 82 |
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