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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
WNT10A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
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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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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Schopf-Schulz-Passarge syndrome Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
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Schopf-Schulz-Passarge syndrome Comprehensive test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
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Schopf-Schulz-Passarge syndrome Sequencing test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
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Oligodontia - Selective tooth agenesis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 9 |
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Oligodontia - Selective tooth agenesis NGS panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 9 |
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Oligodontia - Selective tooth agenesis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 9 |
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Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States | 148 | 73 |
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Ectodermal Dysplasia via the WNT10A Gene PreventionGenetics, part of Exact Sciences United States | 3 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 11 | 6 |
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Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain | 60 | 23 |
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Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain | 62 | 25 |
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Natera, Inc. United States | 244 | 254 |
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Natera, Inc. United States | 265 | 275 |
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Natera, Inc. United States | 265 | 274 |
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Natera, Inc. United States | 265 | 274 |
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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.