Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Cohen syndrome, 216550, Autosomal recessive; COH1 (Cohen syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Cohen syndrome, 216550, Autosomal recessive; COH1 (Cohen syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Congenital Neutropenia GenePanel Mayo Clinic Laboratories Mayo Clinic United States | 46 | 30 |
|
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
Rapid microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
VPS13B - 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 | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Centogene AG - the Rare Disease Company Germany | 247 | 262 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 404 | 241 |
|
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 253 | 189 |
|
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.