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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 72 | 133 |
|
DDX11 Gene Warsaw breakage syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
DDX11 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA) Genomic Testing Cooperative, LCA United States | 1 | 434 |
|
Genomic Testing Cooperative, LCA United States | 1 | 434 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
CGC Genetics Unilabs Portugal | 1 | 1293 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
GeneDx United States | 1 | 877 |
|
GeneDx United States | 2 | 2592 |
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 1 | 90 |
|
Comprehensive Bone Marrow Failure (BMF)/Myelodysplastic Syndrome (MDS)/Leukemia Predisposition Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 4 | 112 |
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 8 | 25 |
|
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
|
Warsaw Breakage Syndrome (DDX11 Single Gene Test) Fulgent Genetics United States | 1 | 1 |
|
Mental retardation - different panels Institute of Human Genetics Cologne University Germany | 7 | 2536 |
|
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.