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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae United States | 95 | 45 |
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Epidermolysis bullosa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 23 |
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Epidermolysis bullosa NGS panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 23 |
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Epidermolysis bullosa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 23 |
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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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Epidermolysis bullosa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 23 |
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Epidermolysis bullosa NGS panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 23 |
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Epidermolysis bullosa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 23 |
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Hypertrophic Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States | 66 | 60 |
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Epidermolysis bullosa (WES based NGS panel of 23 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal | 1 | 23 |
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Cardiovascular Comprehensive Panel CGC Genetics Unilabs Portugal | 1 | 353 |
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CGC Genetics Unilabs Portugal | 1 | 277 |
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Mendelics Brazil | 1 | 25 |
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General panel of metabolic myopathies Genologica Medica Spain | 114 | 110 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
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Epidermolysis Bullosa (EB) XomeDx Slice GeneDx United States | 1 | 28 |
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Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
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Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States | 1 | 1718 |
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GeneDx United States | 2 | 2592 |
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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.