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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
SLC35A2 - 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 | 734 | 744 |
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Centogene AG - the Rare Disease Company Germany | 777 | 770 |
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Centogene AG - the Rare Disease Company Germany | 669 | 688 |
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Centogene AG - the Rare Disease Company Germany | 247 | 262 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States | 253 | 189 |
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Congenital Disorders of Glycosylation (CDG) Panel PreventionGenetics, part of Exact Sciences United States | 56 | 54 |
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Congenital Disorder of Glycosylation, Type IIm via the SLC35A2 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Invitae United States | 466 | 297 |
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Invitae Congenital Disorders of Glycosylation Panel Invitae United States | 203 | 152 |
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X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States | 191 | 141 |
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Early Infantile Epileptic Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States | 144 | 124 |
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X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 240 | 171 |
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Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 234 | 240 |
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Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Athena Diagnostics Inc United States | 18 | 16 |
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Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Athena Diagnostics Inc United States | 57 | 56 |
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Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Athena Diagnostics Inc United States | 66 | 67 |
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Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics Inc United States | 233 | 234 |
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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.