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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Angioedema, hereditary, type III, 610618, Autosomal dominant; HAE3 (Hereditary angioedema) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Multiple exostoses (sequence analysis of EXT1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
F12 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Atypical Hemolytic Uremic Syndrome (aHUS) Panel Centogene AG - the Rare Disease Company Germany | 23 | 25 |
|
Centogene AG - the Rare Disease Company Germany | 110 | 112 |
|
Invitae Hereditary Angioedema Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 5 | 4 |
|
Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands | 1 | 1 |
|
Clotting factor deficiency panel. 16-gene NGS panel. Genologica Medica Spain | 29 | 16 |
|
Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain | 96 | 62 |
|
Angioedema, hereditary: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 4 | 4 |
|
Angioedema, hereditary, type III Duzen Laboratories Duzen BBAGUAS Turkey | 1 | 1 |
|
Comprehensive Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States | 58 | 37 |
|
Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States | 146 | 82 |
|
Focus Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States | 40 | 22 |
|
Vascular and lymphatic disorders Panel CeGaT GmbH Germany | 17 | 18 |
|
CeGaT GmbH Germany | 2 | 1 |
|
Fulgent Genetics United States | 2 | 1 |
|
Coagulation Deficiency NGS Panel Fulgent Genetics United States | 56 | 24 |
|
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.