Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Multiple sulfatase deficiency, WBC Mayo Clinic Laboratories Mayo Clinic United States | 1 | 3 |
|
CTSA Gene Galactosialidosis NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 205 |
|
CTSA - 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 | 829 | 848 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Lysosomal Storage Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 56 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Cerebral Small Vessel Disease Panel PreventionGenetics, part of Exact Sciences United States | 13 | 10 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States | 67 | 45 |
|
Invitae Metabolic Non-Immune Fetal Hydrops Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 50 | 51 |
|
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.