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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
C3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Invitae Complement Deficiency Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 35 | 22 |
|
Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 25 | 13 |
|
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 | 525 | 338 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
C3 - complement-mediated eye disease Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
C3 - age-related macular degeneration Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
panel Complement-Mediated Eye Disease (CFH, CFI, CFB, C3) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 4 | 4 |
|
panel Age-related Macular Degeneration (CFH, CFI, CFB, C3) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 4 | 4 |
|
panel Basal Laminar Drusen (CFH, CFI, CFB, C3) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 4 | 4 |
|
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 603 | 446 |
|
Plugin system clutter panel. NGS panel of 75 genes. Genologica Medica Spain | 76 | 75 |
|
Hemolytic uremic syndrome panel. 9-gene NGS panel. Genologica Medica Spain | 19 | 9 |
|
Macular degeneration, age-related: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 16 | 17 |
|
Comprehensive Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States | 58 | 37 |
|
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 473 |
|
Focus Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States | 40 | 22 |
|
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.