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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
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PANK2 - 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 Neurodegeneration with Brain Iron Accumulation Panel Invitae United States | 41 | 20 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
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Invitae Brain Malformations Panel Invitae United States | 247 | 161 |
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HARP syndrome, 607236, Autosomal recessive (HARP syndrome) (MLPA) 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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HARP syndrome, 607236, Autosomal recessive (HARP syndrome) (Prenatal) (MLPA) 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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Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States | 247 | 163 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Molecular Vision Laboratory United States | 342 | 268 |
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Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
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Quantitative Genomic Medicine Laboratories, SL Spain | 328 | 300 |
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Invitae Dystonia Comprehensive Panel Invitae United States | 61 | 38 |
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Baylor Genetics United States | 842 | 637 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 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.