Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Leopard Syndrome (PTPN11 gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Health in Code Spain | 71 | 35 |
|
Health in Code Spain | 26 | 12 |
|
Aortic Valvular Diseases Panel Health in Code Spain | 60 | 30 |
|
Pan Cardiomyopathy Panel (62 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States | 100 | 61 |
|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
PTPN11 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
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 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 250 | 155 |
|
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
|
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 |
|
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 267 | 186 |
|
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States | 224 | 170 |
|
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.