Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Pelizaeus-Merzbacher disease , X-linked spastic paresis type 2 (deletions/duplications in PLP1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 107 | 96 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
|
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
|
Invitae Iron Related Disorders Panel Invitae United States | 39 | 27 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States | 1 | 378 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 20 | 46 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 600 |
|
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel PreventionGenetics, part of Exact Sciences United States | 34 | 39 |
|
Genetic Services Laboratory University of Chicago United States | 289 | 481 |
|
Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
|
Invitae United States | 177 | 130 |
|
Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 328 | 300 |
|
Disorders of Folate Metabolism and Transport Panel PreventionGenetics, part of Exact Sciences United States | 3 | 3 |
|
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.