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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Detection by FISH of 13q14.3 deletion CGC Genetics Unilabs Portugal | 1 | 1 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
NAXE - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 394 | 319 |
|
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 351 | 249 |
|
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 369 |
|
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States | 202 | 212 |
|
Genetic Services Laboratory University of Chicago United States | 294 | 481 |
|
MNG Laboratories (Medical Neurogenetics, LLC.) United States | 414 | 800 |
|
Hereditary ataxias panel_v.2.0 CGC Genetics Unilabs Portugal | 1 | 427 |
|
Nuclear-Encoded Mitochondrial Disorders Panel CGC Genetics Unilabs Portugal | 1 | 306 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
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.