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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
SH3PXD2B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
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 | 95 | 95 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Invitae United States | 57 | 27 |
|
Bone Fragility and Fracture Panel PreventionGenetics, part of Exact Sciences United States | 87 | 74 |
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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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Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States | 272 | 278 |
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PreventionGenetics, part of Exact Sciences United States | 38 | 24 |
|
Axenfeld-Rieger Syndrome Panel PreventionGenetics, part of Exact Sciences United States | 14 | 10 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Frank-ter Haar syndrome (sequence analysis of SH3PXD2B gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Fulgent Genetics United States | 339 | 61 |
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Glaucoma , Panel Massive Sequencing (NGS) 17 Genes Reference Laboratory Genetics Spain | 30 | 17 |
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Optic Atrophy & Early Glaucoma NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 40 | 34 |
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Selected Genetic Syndromes with skeletal involvement Panel CeGaT GmbH Germany | 36 | 42 |
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Fulgent Genetics United States | 1 | 1 |
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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.