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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
PYCR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Centogene AG - the Rare Disease Company Germany | 777 | 770 |
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Centogene AG - the Rare Disease Company Germany | 406 | 414 |
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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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Centogene AG - the Rare Disease Company Germany | 157 | 151 |
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Invitae Connective Tissue Disorders Panel Invitae United States | 195 | 92 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 110 | 50 |
|
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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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 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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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.