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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 65 | 50 |
|
EXTL3 - 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 Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 253 | 189 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 177 | 130 |
|
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 552 | 424 |
|
Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 203 | 152 |
|
Primary Immunodeficiency Panel Baylor Genetics United States | 1 | 463 |
|
Baylor Genetics United States | 1 | 354 |
|
CGC Genetics Unilabs Portugal | 1 | 1307 |
|
CGC Genetics Unilabs Portugal | 1 | 385 |
|
CGC Genetics Unilabs Portugal | 1 | 662 |
|
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil | 1 | 397 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 696 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
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.