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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
MED12 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Invitae Connective Tissue Disorders Panel Invitae United States | 195 | 92 |
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Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
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Invitae Brain Malformations Panel Invitae United States | 247 | 161 |
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Genetic Services Laboratory University of Chicago United States | 47 | 125 |
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Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
|
PreventionGenetics, part of Exact Sciences United States | 220 | 128 |
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Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States | 170 | 99 |
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Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States | 247 | 163 |
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PreventionGenetics, part of Exact Sciences United States | 156 | 73 |
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Ambry Genetics United States | 50 | 35 |
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FBN1 gene sequence and deletion/duplication reflex to TAADNext® Ambry Genetics United States | 50 | 35 |
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Ambry Genetics United States | 236 | 167 |
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PreventionGenetics, part of Exact Sciences United States | 7 | 7 |
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Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel PreventionGenetics, part of Exact Sciences United States | 43 | 42 |
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Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences United States | 149 | 158 |
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Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States | 223 | 238 |
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X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States | 191 | 141 |
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Invitae Aortopathy Comprehensive Panel Invitae United States | 60 | 29 |
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Genetic Services Laboratory University of Chicago United States | 26 | 68 |
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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.