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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States | 109 | 99 |
|
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States | 185 | 145 |
|
Centogene AG - the Rare Disease Company Germany | 218 | 135 |
|
ERCC2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Carrier Screening Guidelines-Based Panel Ambry Genetics United States | 199 | 164 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Broad Carrier Screen without X-linked Disorders Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 98 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 224 | 112 |
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 124 | 69 |
|
Progeroid syndromes and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 21 | 21 |
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Progeroid syndromes and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 21 | 21 |
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Progeroid syndromes and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 21 | 21 |
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Xeroderma pigmentosum Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 9 | 9 |
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Xeroderma pigmentosum NGS panel HNL Genomics Connective Tissue Gene Tests United States | 9 | 9 |
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Xeroderma pigmentosum Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 9 | 9 |
|
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 552 | 424 |
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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.