Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
COL2A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 12 | 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 | 417 | 413 |
|
Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany | 75 | 76 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 203 | 194 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Connective Tissue Disorders Panel Invitae United States | 195 | 92 |
|
PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
|
Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Invitae Stickler Syndrome Panel Invitae United States | 32 | 9 |
|
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
|
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
SED congenita, 183900, autosomal dominant (Spondyloepiphyseal dysplasia congenita) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
SED congenita, 183900, autosomal dominant (Spondyloepiphyseal dysplasia congenita) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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.