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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
C26:0 Lyso-phosphatidylcholine Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute United States | 4 | 1 |
|
very long chain fatty acids (cultured cells) Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute United States | 4 | 2 |
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ACOX1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae United States | 210 | 134 |
|
Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
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Lysosomal Storage Disorders Panel PreventionGenetics United States | 242 | 146 |
|
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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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States | 356 | 211 |
|
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics United States | 201 | 211 |
|
Invitae Zellweger Spectrum Disorder Panel Invitae United States | 36 | 18 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 328 | 300 |
|
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
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Acyl-CoA Oxidase Deficiency via the ACOX1 Gene PreventionGenetics United States | 1 | 1 |
|
PreventionGenetics United States | 36 | 27 |
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Baylor Genetics United States | 842 | 637 |
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Integrated Genetics Westborough LabCorp United States | 330 | 746 |
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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.