Clinical and research tests for C1842914 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 47

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Macular dystrophy, vitelliform, 3, 608161, Autosomal dominant; VMD3 (Adult-onset foveomacular vitelliform dystrophy) (PRPH2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Macular dystrophy, vitelliform, 3, 608161, Autosomal dominant; VMD3 (Adult-onset foveomacular vitelliform dystrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
BEST1 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	5	1	C Sequence analysis of the entire coding region
PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRPH2 Sequence Analysis Baylor Genetics United States	5	1	C Sequence analysis of the entire coding region T Targeted variant analysis
PRPH2 Deletion/Duplication Analysis Baylor Genetics United States	5	1	D Deletion/duplication analysis
PRPH2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	5	1	T Targeted variant analysis
Cone-Rod Dystrophy Panel PreventionGenetics, part of Exact Sciences United States	37	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
BEST1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	5	1	T Targeted variant analysis
BEST1 Sequence Analysis Baylor Genetics United States	5	1	C Sequence analysis of the entire coding region T Targeted variant analysis
BEST1 Deletion/Duplication Analysis Baylor Genetics United States	5	1	D Deletion/duplication analysis
BEST1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 Gene PreventionGenetics, part of Exact Sciences United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Macular dystrophy, vitelliform: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
Congenital Cataracts NGS Panel Fulgent Genetics United States	106	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vitreoretinochoroidopathy (BEST1 Single Gene Test) Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 47

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.