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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 107 | 96 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 221 |
|
UMPS - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae United States | 75 | 72 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Orotic Aciduria via the UMPS Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Hyperammonemia and urea cycle disorders panel. 48-gene NGS panel. Genologica Medica Spain | 49 | 48 |
|
Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes. Genologica Medica Spain | 53 | 53 |
|
Purine and Pyrimidine Metabolism Disorders Panel Blueprint Genetics Finland | 15 | 21 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Hereditary Orotic Aciduria, Sequencing UMPS Gene Reference Laboratory Genetics Spain | 1 | 1 |
|
Biochemical Genetics Laboratory University of California San Diego United States | 1 | 1 |
|
Bioarray Spain | 1 | 1 |
|
Fulgent Genetics United States | 1 | 1 |
|
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.