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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain | 194 | 122 |
|
Genologica Medica Spain | 123 | 68 |
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Congenital dyskeratosis panel. NGS panel of 13 genes. Genologica Medica Spain | 19 | 13 |
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CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 64 | 39 |
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CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 95 | 62 |
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Dyskeratosis congenita: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 14 | 10 |
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Dyskeratosis Congenita NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 18 | 14 |
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Fulgent Genetics United States | 180 | 60 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States | 330 | 90 |
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Congenital Dyskeratosis , Panel Massive Sequencing (NGS) 8 genes Reference Laboratory Genetics Spain | 8 | 8 |
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Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Reference Laboratory Genetics Spain | 63 | 58 |
|
Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 36 | 40 |
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Comprehensive Pulmonary NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 123 | 124 |
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DYSKERATOSIS CONGENITA (AUTOSOMAL RECESSIVE) Laboratorio de Genetica Clinica SL Spain | 5 | 6 |
|
Full Comprehensive Cancer Panel Fulgent Genetics United States | 329 | 127 |
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CeGaT GmbH Germany | 8 | 10 |
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Disorders associated with malignancy Panel CeGaT GmbH Germany | 26 | 45 |
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Fulgent Genetics United States | 1 | 1 |
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Fulgent Genetics United States | 5129 | 4672 |
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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.