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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Laboratorio de Genetica Clinica SL Spain | 7 | 7 |
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Seckel Syndrome, Mutations (A2101G, G4066T, 2320delA) ATR Gene Reference Laboratory Genetics Spain | 1 | 1 |
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Asper Biogene Asper Biogene LLC Estonia | 318 | 252 |
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Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain | 9 | 13 |
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Seckel syndrome: ATR gene sequence analysis GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain | 1 | 1 |
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ATR Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 2 | 1 |
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Selected Genetic Syndromes with skeletal involvement Panel CeGaT GmbH Germany | 36 | 42 |
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Asper Biogene Asper Biogene LLC Estonia | 111 | 96 |
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Bioarray Spain | 1 | 1 |
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Microcephaly and Pontocerebellar Hypoplasia Panel CeGaT GmbH Germany | 38 | 36 |
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Microcephaly and Pontocerebellar Hypoplasia Panel CeGaT GmbH Germany | 38 | 36 |
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Seckel Syndrome NGS and Deletion/Duplication Panel DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 10 | 5 |
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GeneTech ATS GeneTech Private Limited India | 1 | 1 |
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Institute of Human Genetics Cologne University Germany | 9 | 8 |
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Seckel syndrome: ATR gene mutation analysis (A2101G, G4066T, 2320delA) GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain | 1 | 1 |
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Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 112 | 116 |
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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.