Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Deafness, autosomal dominant 50 (sequence analysis of MIR96 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
SATB2 Gene Glass syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Comprehensive Epilepsy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 318 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Microdeletion / Microduplication Syndromes Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 28 | 39 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
SATB2 - 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 | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 404 | 241 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
|
Cleft lip, cleft palate and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 14 |
|
Cleft lip, cleft palate and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 14 |
|
Cleft lip, cleft palate and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 14 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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.