Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 72 | 133 |
|
Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands | 3 | 1 |
|
HDAC8 Gene Cornelia de Lange syndrome type 5 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
HDAC8 - 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 |
|
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 404 | 241 |
|
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 356 | 177 |
|
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 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States | 170 | 99 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 600 |
|
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States | 103 | 99 |
|
Cornelia de Lange syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 8 |
|
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.