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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
NEUROFIBROMATOSI DE TYPE 2 - NF2 gene Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain | 3 | 3 |
|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
LZTR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Invitae RASopathies and Noonan Spectrum Disorders Panel Invitae United States | 60 | 28 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Medical Genomics Laboratory Department of Genetics UAB United States | 9 | 1 |
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Invitae United States | 409 | 164 |
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Invitae United States | 160 | 62 |
|
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States | 223 | 198 |
|
PreventionGenetics, part of Exact Sciences United States | 2 | 2 |
|
Noonan Syndrome via the LZTR1 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
|
Invitae Cardiomyopathy Comprehensive Panel Invitae United States | 198 | 82 |
|
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Invitae United States | 239 | 100 |
|
PreventionGenetics, part of Exact Sciences United States | 122 | 117 |
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Hereditary pediatric cancer panel. NGS panel of 71 genes. Genologica Medica Spain | 158 | 71 |
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Noonan syndrome panel. NGS panel of 22 genes. Genologica Medica Spain | 48 | 22 |
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GeneDx United States | 103 | 82 |
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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.