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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
ABCA4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Invitae Macular Dystrophy Panel Invitae United States | 66 | 36 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Macular degeneration, age-related, 2, 153800, Autosomal dominant; ARMD2 (Stargardt disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
ABCA4 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States | 4 | 1 |
|
ABCA4 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States | 4 | 1 |
|
Baylor Genetics United States | 4 | 1 |
|
ABCA4 Deletion/Duplication Analysis (Prenatal Diagnosis) Baylor Genetics United States | 4 | 1 |
|
ABCA4 Deletion/Duplication Analysis Baylor Genetics United States | 4 | 1 |
|
ABCA4 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 4 | 1 |
|
Baylor Genetics United States | 842 | 637 |
|
Stargardt disease, Fundus Flavimaculatus or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene PreventionGenetics, part of Exact Sciences United States | 4 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 4 | 1 |
|
Macular dystrophy panel. NGS panel of 26 genes. Genologica Medica Spain | 50 | 26 |
|
Rod and cone dystrophy panel. 42-gene NGS panel. Genologica Medica Spain | 65 | 41 |
|
Genologica Medica Spain | 164 | 108 |
|
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
|
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.