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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
POLR1C - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 203 | 194 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Invitae United States | 44 | 28 |
|
Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
|
Treacher Collins syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 8 |
|
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 Hospital United States | 110 | 45 |
|
PreventionGenetics, part of Exact Sciences United States | 177 | 163 |
|
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 360 | 222 |
|
Treacher Collins syndrome 3 Sequencing test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Treacher Collins syndrome 3 Comprehensive 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.