Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 2 | 1 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
Centogene AG - the Rare Disease Company Germany | 74 | 34 |
|
SMC1A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 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 | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Invitae Limb and Digital Malformations Panel Invitae United States | 356 | 177 |
|
Invitae Brain Malformations Panel Invitae United States | 247 | 161 |
|
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States | 116 | 65 |
|
Cornelia de Lange syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 5 | 5 |
|
Cornelia de Lange syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 5 | 5 |
|
Cornelia de Lange syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States | 5 | 5 |
|
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.