Filters
Other countries
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PTH1R - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Invitae Hypoparathyroidism Panel Invitae United States | 41 | 18 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 110 | 50 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Chondrodysplasia, Blomstrand type NGS test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Chondrodysplasia, Blomstrand type Comprehensive test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Chondrodysplasia, Blomstrand type Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Skeletal dysplasia extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 26 | 19 |
|
Skeletal dysplasia core & extended NGS panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
|
Skeletal dysplasia core & extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
|
Skeletal dysplasia extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 26 | 19 |
|
Skeletal dysplasia core & extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
|
Skeletal dysplasia extended NGS panel HNL Genomics Connective Tissue Gene Tests United States | 26 | 19 |
|
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States | 148 | 73 |
|
PreventionGenetics, part of Exact Sciences United States | 15 | 15 |
|
Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 4 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 4 | 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.