Clinical and research tests for C2750720 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
RPGRIP1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Macular Dystrophy Panel Invitae United States	66	36	D Deletion/duplication analysis
Cone-rod dystrophy 13, 608194; CORD13 (Cone rod dystrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cone-rod dystrophy 13, 608194; CORD13 (Cone rod dystrophy) (RPGRIP1 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
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
Stargardt Disease (STGD) and Macular Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	35	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Retinitis Pigmentosa Panel PreventionGenetics, part of Exact Sciences United States	91	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autosomal Recessive Retinitis Pigmentosa (RP) Panel PreventionGenetics, part of Exact Sciences United States	62	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leber Congential Amaurosis Panel (MitomeNGS) Baylor Genetics United States	32	19	C Sequence analysis of the entire coding region
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
RPGRIP1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
RPGRIP1 Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis
RPGRIP1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Leber's congenital amaurosis panel. NGS panel of 26 genes. Genologica Medica Spain	40	26	C Sequence analysis of the entire coding region
Rod and cone dystrophy panel. 42-gene NGS panel. Genologica Medica Spain	65	41	C Sequence analysis of the entire coding region
Retinitis pigmentosa panel Genologica Medica Spain	164	108	C Sequence analysis of the entire coding region

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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.