Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Centogene AG - the Rare Disease Company Germany | 195 | 221 |
|
PNPO - 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 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
PreventionGenetics United States | 126 | 111 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
PNPO - Pyridoxamine 5'-phosphate oxidase deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
|
Invitae Elevated Glycine Panel (including Glycine Encephalopathy) Invitae United States | 13 | 12 |
|
Invitae Neurotransmitter Disorders Panel Invitae United States | 52 | 44 |
|
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
|
Invitae United States | 442 | 298 |
|
Pyridoxine 5'-Phosphate Oxidase Deficiency via the PNPO Gene PreventionGenetics United States | 1 | 1 |
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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.