Clinical and research tests for C2931228 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiology Sequencing- Congenital heart Disease Panel (24 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	24	24	X Mutation scanning of select exons
Cardiology Sequencing- Full Panel (174 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	122	174	X Mutation scanning of select exons
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
ZIC3 - 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 Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
VACTERL Association and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	123	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hydrocephalus Panel PreventionGenetics, part of Exact Sciences United States	41	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nonsyndromic Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	54	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
VACTERL association, X-linked, 314390, X-linked recessive; VACTERLX (VACTERL with hydrocephalus) (ZIC3 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
VACTERL association, X-linked, 314390, X-linked recessive; VACTERLX (VACTERL with hydrocephalus) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
VACTERL association, X-linked, 314390, X-linked recessive; VACTERLX (VACTERL with hydrocephalus) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
VACTERL association, X-linked, 314390, X-linked recessive; VACTERLX (VACTERL with hydrocephalus) (ZIC3 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Congenital Heart Disease Panel Invitae United States	107	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Bone Marrow Failure Syndromes Panel Invitae United States	138	85	D Deletion/duplication analysis
Invitae Fanconi Anemia Panel Invitae United States	26	15	D Deletion/duplication analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
ZIC3 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region

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