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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
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 |
|
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 |
|
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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Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 28 |
|
TBXAS1 Gene Sequencing (2 day STAT TAT) Machaon Diagnostics United States | 1 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Versiti Diagnostic Laboratories Versiti, Inc United States | 1 | 1 |
|
TBXAS1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
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Comprehensive Platelet Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States | 60 | 63 |
|
Ghosal Hematodiaphyseal Dysplasia (TBXAS1 Single Gene Test) Fulgent Genetics United States | 2 | 1 |
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Fulgent Genetics United States | 74 | 44 |
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Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States | 146 | 82 |
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Skeletal dysplasia with increased bone density Panel CeGaT GmbH Germany | 26 | 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.