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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 754 | 562 |
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Invitae Surfactant Metabolism Panel Invitae United States | 40 | 19 |
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Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States | 92 | 68 |
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Invitae Neonatal Respiratory Distress Panel Invitae United States | 163 | 111 |
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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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 163 | 128 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 240 | 171 |
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Interstitial lung disease panel. 25-gene NGS panel. Genologica Medica Spain | 40 | 25 |
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Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain | 194 | 122 |
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Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain | 115 | 66 |
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Congenital neutropenia panel. NGS panel of 26 genes. Genologica Medica Spain | 35 | 25 |
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Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 64 | 66 |
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Neonatal Respiratory Distress panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 16 | 16 |
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Sufactant metabolism dysfunction, pulmonary: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 5 | 5 |
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Surfactant Dysfunction & Respiratory Distress in Premature Infants NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 12 | 11 |
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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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Comprehensive Pulmonary-Vascular Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 100 | 86 |
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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.