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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain | 220 | 139 |
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Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain | 247 | 156 |
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Genologica Medica Spain | 164 | 108 |
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Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
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Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain | 152 | 97 |
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Congenital liver fibrosis panel. NGS panel of 52 genes. Genologica Medica Spain | 89 | 50 |
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Bardet-Biedl syndrome panel. 23-gene NGS panel. Genologica Medica Spain | 44 | 23 |
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Monogenic obesity panel. 36-gene NGS panel. Genologica Medica Spain | 55 | 36 |
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Asper Biogene Asper Biogene LLC Estonia | 165 | 120 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Bardet-Biedl Syndrome: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 23 | 23 |
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Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes Reference Laboratory Genetics Spain | 16 | 18 |
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Bardet-Biedl Syndrome NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 24 | 26 |
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Laboratorio de Genetica Clinica SL Spain | 12 | 14 |
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Laboratorio de Genetica Clinica SL Spain | 17 | 23 |
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Retinitis Pigmentosa NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 103 | 92 |
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Bardet-Biedl Syndrome Type 8 , Sequencing TTC8 Gene Reference Laboratory Genetics Spain | 1 | 1 |
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Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia | 367 | 291 |
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CeGaT GmbH Germany | 2 | 1 |
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Molecular Vision Laboratory United States | 38 | 23 |
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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.