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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Cardiofaciocutaneous syndrome (sequence analysis of MAP2K1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 16 | 16 |
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Joubert/Meckel-Gruber syndrome Panel Genetic Services Laboratory University of Chicago United States | 34 | 41 |
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Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 299 |
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KIF14 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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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 | 498 | 498 |
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Centogene AG - the Rare Disease Company Germany | 499 | 499 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Joubert syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 39 | 31 |
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Joubert syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 39 | 31 |
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Joubert syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 39 | 31 |
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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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qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 525 | 338 |
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Joubert syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 37 | 37 |
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Joubert syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 37 | 37 |
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Joubert syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 37 | 37 |
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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.