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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CIITA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Invitae Congenital Diarrhea Panel Invitae United States | 121 | 83 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States | 241 | 157 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 360 | 222 |
|
Severe Combined Immunodeficiency Asper Biogene Asper Biogene LLC Estonia | 61 | 43 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 3 | 1 |
|
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
|
B-Positive Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States | 38 | 26 |
|
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States | 330 | 90 |
|
Periodic Fever/Autoinflammatory Disorders NGS Panel Fulgent Genetics United States | 68 | 28 |
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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.