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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 369 |
|
YME1L1 - Combined oxidative phosphorylation deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 289 | 481 |
|
Optic Atrophy and Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 96 | 68 |
|
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States | 1 | 394 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 223 |
|
Nuclear-Encoded Mitochondrial Disorders Panel CGC Genetics Unilabs Portugal | 1 | 306 |
|
Mendelics Brazil | 1 | 321 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Mitochondrial genome sequencing Molecular Vision Laboratory United States | 526 | 339 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 19 | 560 |
|
Optic atrophy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 6 | 6 |
|
Mental retardation - different panels Institute of Human Genetics Cologne University Germany | 7 | 2536 |
|
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.