Clinical and research tests for 23347 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SMCHD1 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bosma arhinia microphthalmia syndrome, 603457, Autosomal dominant; BAMS (Arrhinia-choanal atresia-microphthalmia syndrome) (SMCHD1 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
Bosma arhinia microphthalmia syndrome, 603457, Autosomal dominant; BAMS (Arrhinia-choanal atresia-microphthalmia syndrome) (SMCHD1 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
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901; FSHD2 (Facioscapulohumeral dystrophy) (SMCHD1 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
Genomic Unity Muscular Dystrophy Analysis Variantyx, Inc. United States	4	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Facioscapulohumeral muscular dystrophy MGZ Medical Genetics Center Germany	2	7	D Deletion/duplication analysis M Methylation analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Facioscapulohumeral muscular dystrophy type 2 (FSHD2) - SMCHD1 and DNMT3B gene sequence analysis Molecular Diagnostics Platform_Biogipuzkoa Health Research Institute Biogipuzkoa Health Research Institute Spain	1	2	C Sequence analysis of the entire coding region
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	114	52	D Deletion/duplication analysis
Invitae Limb-Girdle Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	91	37	D Deletion/duplication analysis
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	130	81	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
Limb Girdle Muscular Dystrophy (LGMD) Panel PreventionGenetics, part of Exact Sciences United States	34	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Whole exome NIEHS Clinical Research Unit National Institute of Environmental Health Sciences United States	5	3	C Sequence analysis of the entire coding region

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