Clinical and research tests for C4225314 - 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
COL12A1 - 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 Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Ullrich congenital muscular dystrophy 2, 616470 (Congenital muscular dystrophy, Ullrich type) (COL12A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Ullrich congenital muscular dystrophy 2, 616470 (Congenital muscular dystrophy, Ullrich type) (COL12A1 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
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 (Congenital muscular dystrophy, Ullrich type) (COL12A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ehlers-Danlos Syndrome Panel Invitae United States	38	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Muscular Dystrophy Panel Invitae United States	64	28	D Deletion/duplication analysis
Invitae Comprehensive Muscular Dystrophy Panel Invitae United States	114	52	D Deletion/duplication analysis
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Congenital Myopathy Panel Invitae United States	58	36	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Type VI-Related Collagenopathy via the COL12A1 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
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Myopathy Panel PreventionGenetics, part of Exact Sciences United States	57	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Type VI-Related Collagenopathy Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Muscular Dystrophy Panel PreventionGenetics, part of Exact Sciences United States	33	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Panel of disorders related to collagen type VI. 6-gene NGS panel. Genologica Medica Spain	11	6	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.