Clinical and research tests for C0152109 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spinal Muscular Atrophy - I, II, and III Center for Genetics at Saint Francis Saint Francis Hospital United States	3	1	D Deletion/duplication analysis
SMN1 & SMN2 - MLPA Centogene AG - the Rare Disease Company Germany	4	2	D Deletion/duplication analysis
SMN1 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	4	1	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
Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (SMN1 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
Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (SMN1 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
Spinal muscular atrophy, type III, modifier of, 253400, Autosomal recessive (Proximal spinal muscular atrophy type 3) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Spinal muscular atrophy, type III, modifier of, 253400, Autosomal recessive (Proximal spinal muscular atrophy type 3) (SMN2 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
Spinal muscular atrophy, type III, modifier of, 253400, Autosomal recessive (Proximal spinal muscular atrophy type 3) (SMN2 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
Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Spinal muscular atrophy, type III, modifier of, 253400, Autosomal recessive (Proximal spinal muscular atrophy type 3) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
UNITY Carrier Screen BillionToOne United States	16	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen without X-Linked Disorders Invitae United States	8	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis 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
Spinal Muscular Atrophy via MLPA of SMN1 and SMN2 PreventionGenetics, part of Exact Sciences United States	4	2	D Deletion/duplication analysis
Invitae Spinal Muscular Atrophy Panel Invitae United States	4	2	D Deletion/duplication analysis
Invitae Hereditary Motor Neuropathy Panel Invitae United States	60	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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