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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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ATRIP Gene Seckel syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
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Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Invitae United States | 48 | 38 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 23 | 21 |
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Microcephalic primordial dwarfism NGS panel HNL Genomics Connective Tissue Gene Tests United States | 23 | 21 |
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Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 23 | 21 |
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ATRIP gene (Sequence Analysis-All Coding Exons) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Microcephalic primordial dwarfism NGS panel HNL Genomics Connective Tissue Gene Tests United States | 23 | 21 |
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Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 23 | 21 |
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Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 23 | 21 |
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Microcephaly and pontocerebellar hypoplasia (WES based panel of 53 genes, incluiding CNV analysis) CGC Genetics Unilabs Portugal | 1 | 53 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 152 |
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GeneDx United States | 1 | 877 |
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GeneDx United States | 2 | 2592 |
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GeneDx United States | 1 | 1501 |
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CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 16 |
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Mental retardation - different panels Institute of Human Genetics Cologne University Germany | 7 | 2536 |
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Laboratorio de Genetica Clinica SL Spain | 7 | 7 |
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Fulgent Genetics United States | 24 | 1 |
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Institute of Human Genetics Cologne University Germany | 9 | 8 |
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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.