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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 |
|
Centogene AG - the Rare Disease Company Germany | 498 | 498 |
|
Centogene AG - the Rare Disease Company Germany | 499 | 499 |
|
Centogene AG - the Rare Disease Company Germany | 95 | 95 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
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 |
|
Metaphyseal chondrodysplasia, Jansen type Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Metaphyseal chondrodysplasia, Jansen type NGS test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Metaphyseal chondrodysplasia, Jansen type Comprehensive 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 |
|
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
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 |
|
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.