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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
ALDH1A3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States | 73 | 55 |
|
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States | 272 | 278 |
|
Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 48 |
|
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 130 | 81 |
|
Microphthalmia, Anophthalmia and Coloboma Panel CGC Genetics Unilabs Portugal | 1 | 91 |
|
Microphthalmia isolated 8 (sequence analysis of ALDH1A3 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States | 1 | 695 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
GeneDx United States | 2 | 2592 |
|
Microphthalmia, isolated: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 7 | 7 |
|
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States | 244 | 78 |
|
Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet Denmark | 11 | 29 |
|
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Blueprint Genetics Finland | 3 | 54 |
|
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.