Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute United States | 2 | 1 |
|
ALDH7A1 - 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 | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
Genetic Services Laboratory University of Chicago United States | 47 | 125 |
|
PreventionGenetics, part of Exact Sciences United States | 131 | 115 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
Amino acid, urine, quantitative IU Genetic Testing Laboratories Indiana University School of Medicine United States | 11 | 41 |
|
Amino acid, plasma, quantitative IU Genetic Testing Laboratories Indiana University School of Medicine United States | 8 | 34 |
|
ALDH7A1 - Epilepsy, pyridoxine-dependent Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
|
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.