Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT) Machaon Diagnostics United States | 26 | 31 |
|
TBXAS1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 95 | 95 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 14 |
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Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 14 |
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Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 14 |
|
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 266 | 186 |
|
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 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Platelet Function Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States | 40 | 41 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
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Platelet bleeding disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 34 |
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Osteopetrosis and Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 28 |
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Osteopetrosis and Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 28 |
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Thrombocytopenia Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States | 25 | 28 |
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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.