Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Congenital Heart Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 22 | 44 |
|
Noonan Syndrome and Related Panel Mayo Clinic Laboratories Mayo Clinic United States | 15 | 20 |
|
UAB Medical Genomics Laboratory UAB Medicine United States | 8 | 18 |
|
UAB Medical Genomics Laboratory UAB Medicine United States | 7 | 17 |
|
PPP1CB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 289 | 275 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae RASopathies and Noonan Spectrum Disorders Panel Invitae United States | 60 | 28 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Noonan Spectrum Disorders/RASopathies Panel PreventionGenetics, part of Exact Sciences United States | 29 | 23 |
|
Noonan spectrum disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
Noonan spectrum disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
Noonan spectrum disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States | 224 | 170 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 145 | 112 |
|
Ambry Genetics United States | 20 | 18 |
|
Ambry Genetics United States | 236 | 167 |
|
Noonan spectrum disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
Noonan spectrum disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 25 |
|
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.