Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PPP2R2B - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
TSEN54 Gene Pontocerebellar hypoplasia type 4 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
COL4A2 Gene Porencephaly type 2 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Sphingo Enzyme Panel NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States | 1 | 335 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
ACADSB - 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 | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 173 | 119 |
|
Fatty Acid Oxidation Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 44 |
|
PreventionGenetics, part of Exact Sciences United States | 39 | 41 |
|
PreventionGenetics, part of Exact Sciences United States | 131 | 115 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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 | 625 |
|
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.