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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Schinzel-giedion syndrome testing (SETBP1) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
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SETBP1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States | 2 | 1 |
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SETBP1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Inherited Bone Marrow Failure Panel PreventionGenetics United States | 266 | 186 |
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Autism Spectrum Disorders (ASD) Panel PreventionGenetics United States | 224 | 170 |
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Intergen Genetic Diagnosis and Research Centre Turkey | 1 | 1 |
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Intergen Genetic Diagnosis and Research Centre Turkey | 1 | 1 |
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PreventionGenetics United States | 156 | 73 |
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PreventionGenetics United States | 128 | 85 |
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Differences of Sex Development (DSD) Panel PreventionGenetics United States | 149 | 158 |
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Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics United States | 223 | 238 |
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Invitae United States | 442 | 298 |
|
IGENOMIX Spain | 1 | 1 |
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Unilabs Genetics CGC Genetics Portugal | 20 | 15 |
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Autism (WES based NGS panel of 154 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal | 181 | 154 |
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Schinzel-Giedion syndrome (sequence analysis of SETBP1 gene) Unilabs Genetics CGC Genetics Portugal | 2 | 1 |
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Fulgent Genetics United States | 354 | 209 |
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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.