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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
ZBTB18 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Centogene AG - the Rare Disease Company Germany | 777 | 770 |
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Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 404 | 241 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
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Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 247 | 161 |
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Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
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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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PreventionGenetics, part of Exact Sciences United States | 220 | 128 |
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qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
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Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 600 |
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Cerebral Palsy Spectrum Disorders Panel Baylor Genetics United States | 1 | 419 |
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CGC Genetics Unilabs Portugal | 1 | 759 |
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CGC Genetics Unilabs Portugal | 1 | 1307 |
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HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 696 |
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Rett syndrome and other related syndromes. 34-gene NGS panel. Genologica Medica Spain | 58 | 34 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
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Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
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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.