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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 182 | 117 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
DDX58 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States | 223 | 154 |
|
Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
|
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
|
Singleton-Merten syndrome 2 (sequence analysis of DDX58 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 333 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States | 1 | 695 |
|
AUTOINFLAMMATORY SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 108 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Singleton-Merten syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 2 |
|
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
|
Primary Immunodeficiency Panel Blueprint Genetics Finland | 2 | 275 |
|
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.