Clinical and research tests for 6607 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spinal Muscular Atrophy (SMA) Dosage Analysis Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	1	2	X Mutation scanning of select exons
Motor Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	8	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SMN1 & SMN2 - MLPA Centogene AG - the Rare Disease Company Germany	4	2	D Deletion/duplication analysis
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
SMA Diagnostic Test Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	2	D Deletion/duplication analysis
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, 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
Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis) Variantyx, Inc. United States	14	118	D Deletion/duplication analysis X Mutation scanning of select exons 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
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Spinal Muscular Atrophy (SMA), Fetus Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	2	D Deletion/duplication analysis
SMA Carrier Screen Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	2	T Targeted variant analysis
Spinal Muscular Atrophy (SMN1 and SMN2) UCSF Molecular Diagnostics Laboratory University of California, San Francisco United States	1	2	T Targeted variant analysis

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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.