Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands | 1 | 1 |
|
Achromatopsia (ACHM) via the CNGA3 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
PreventionGenetics, part of Exact Sciences United States | 7 | 6 |
|
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States | 1 | 394 |
|
CGC Genetics Unilabs Portugal | 1 | 203 |
|
CGC Genetics Unilabs Portugal | 1 | 306 |
|
Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 307 |
|
Dystrophy of cones and rods (WES based NGS panel of 38 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal | 1 | 21 |
|
Achromatopsia (WES based NGS panel of 6 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 6 |
|
Achromatopsia 2 (sequence analysis of CNGA3 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 321 |
|
GLOBAL CILIOPATHIES EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 273 |
|
LEBER CONGENITAL AMAUROSIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 35 |
|
Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States | 1 | 695 |
|
Leber's congenital amaurosis panel. NGS panel of 26 genes. Genologica Medica Spain | 40 | 26 |
|
Rod and cone dystrophy panel. 42-gene NGS panel. Genologica Medica Spain | 65 | 41 |
|
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
|
Achromatopsia panel. 8-gene NGS panel. Genologica Medica Spain | 8 | 8 |
|
Achromatopsia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 5 | 5 |
|
Bioarray Spain | 1 | 1 |
|
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.