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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
GP1BA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 110 | 112 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 70 | 50 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 249 | 155 |
|
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 266 | 186 |
|
Thrombocytopenia panel. 34-gene NGS panel. Genologica Medica Spain | 53 | 34 |
|
Platelet function disorder panel. NGS panel of 21 genes. Genologica Medica Spain | 23 | 21 |
|
Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain | 96 | 62 |
|
Comprehensive Bleeding Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States | 80 | 66 |
|
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
|
Fulgent Genetics United States | 74 | 44 |
|
Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States | 146 | 82 |
|
Bernard-Soulier Syndrome NGS Panel Fulgent Genetics United States | 4 | 3 |
|
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States | 716 | 335 |
|
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States | 636 | 298 |
|
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States | 661 | 306 |
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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.