Clinical and research tests for 608051 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Macular dystrophy, retinal, 2, 608051, Autosomal dominant; MCDR2 (Retinal macular dystrophy type 2) (PROM1 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
Pheochromocytoma (sequence analysis of MAX gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
PROM1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	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
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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
PROM1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	4	1	T Targeted variant analysis
PROM1 Deletion/Duplication Analysis Baylor Genetics United States	4	1	D Deletion/duplication analysis
PROM1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PROM1 Sequence Analysis Baylor Genetics United States	4	1	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
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Macular dystrophy panel. NGS panel of 26 genes. Genologica Medica Spain	50	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
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	C Sequence analysis of the entire coding region
Stargardt disease. Panel NGS genes: ABCA4, CNGB3, ELOVL4, PROM1 .. Genologica Medica Spain	12	4	C Sequence analysis of the entire coding region
Mottled Retinal Disorders Panel. 12-gene NGS panel. Genologica Medica Spain	25	12	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.