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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Department of Clinical Genetics Odense University Hospital Denmark | 1 | 1 |
|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
PHEX - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 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 Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Bone Fragility and Fracture Panel PreventionGenetics, part of Exact Sciences United States | 87 | 74 |
|
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 |
|
Invitae Progressive Renal Disease Panel Invitae United States | 310 | 195 |
|
Invitae Hypophosphatemia Panel Invitae United States | 23 | 17 |
|
Invitae X-Linked Hypophosphatemia Test Invitae United States | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
|
Rickets, hypophosphatemic, X-linked dominant Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Rickets, hypophosphatemic, X-linked dominant Comprehensive test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Rickets, hypophosphatemic, X-linked dominant NGS test HNL Genomics Connective Tissue Gene Tests United States | 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.