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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 14 | 18 |
|
DHODH - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 44 | 28 |
|
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States | 297 | 180 |
|
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 356 | 177 |
|
Treacher Collins syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 8 |
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Treacher Collins syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 8 |
|
Treacher Collins syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 8 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 110 | 45 |
|
PreventionGenetics, part of Exact Sciences United States | 177 | 161 |
|
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States | 103 | 99 |
|
Treacher Collins syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 9 | 9 |
|
Treacher Collins syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 9 | 9 |
|
Treacher Collins syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 9 | 9 |
|
Facial Dysostosis Related Disorders Panel PreventionGenetics, part of Exact Sciences United States | 33 | 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.