Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
KANSL1 Gene Koolen syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Comprehensive Epilepsy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 318 |
|
Microdeletion / Microduplication Syndromes Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 28 | 39 |
|
Congenital heart diseases Panel Health in Code Spain | 1 | 76 |
|
Cardiovascular Diseases_General Panel Health in Code Spain | 1 | 380 |
|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
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 | 289 | 275 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States | 224 | 170 |
|
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 |
|
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States | 1 | 378 |
|
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 600 |
|
Invitae United States | 466 | 297 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 1293 |
|
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 234 | 240 |
|
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 231 |
|
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.