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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 | 316 | 314 |
|
XPC - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 249 | 155 |
|
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 |
|
Myriad Genetics, Inc. United States | 1 | 1 |
|
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 124 | 69 |
|
Xeroderma pigmentosum Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 9 | 9 |
|
Xeroderma pigmentosum NGS panel HNL Genomics Connective Tissue Gene Tests United States | 9 | 9 |
|
Xeroderma pigmentosum Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 9 | 9 |
|
PreventionGenetics, part of Exact Sciences United States | 11 | 9 |
|
Xeroderma Pigmentosum via the XPC Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Genologica Medica Spain | 122 | 68 |
|
Genologica Medica Spain | 15 | 9 |
|
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States | 718 | 337 |
|
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.