Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
KARS1 Gene Deafness, autosomal recessive type 89 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States | 4 | 1 |
|
Hydrops fetalis panel for lysosomal disorders Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 23 | 7 |
|
Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 58 | 18 |
|
Urine GAG study for MPS (Qualitative and Quantitative) Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 8 | 1 |
|
Lysosomal storage disorder by enzyme study from amniotic fluid and CVS Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 24 | 23 |
|
Mucopolysaccharide enzyme panel Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 8 | 8 |
|
Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 4 | 1 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Carrier Screening Guidelines-Based Panel Ambry Genetics United States | 199 | 164 |
|
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 | 829 | 848 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 3 | 1 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
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.