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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
RTTN - 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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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Invitae United States | 48 | 38 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Invitae Brain Malformations Panel Invitae United States | 247 | 161 |
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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 | 79 | 52 |
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Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States | 37 | 131 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
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Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain | 63 | 48 |
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Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain | 110 | 57 |
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3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain | 33 | 24 |
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Neuronal Migration Disorders NGS Panel Fulgent Genetics United States | 392 | 83 |
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Cerebral Cortical Malformation NGS Panel Fulgent Genetics United States | 210 | 42 |
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Asper Biogene Asper Biogene LLC Estonia | 318 | 252 |
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Fulgent Genetics United States | 12 | 1 |
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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.