Clinical and research tests for 7415 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 164

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Solid Tumor Fusion Analysis Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	1	115	R RNA analysis
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel Invitae United States	72	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Myopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	20	C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Myopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Myopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic lateral sclerosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	24	C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Complex Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States	72	87	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Spastic Paraplegia Comprehensive Panel PreventionGenetics, part of Exact Sciences United States	87	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dementia, Plus APOE Panel PreventionGenetics, part of Exact Sciences United States	27	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel PreventionGenetics, part of Exact Sciences United States	48	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) Panel PreventionGenetics, part of Exact Sciences United States	36	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; ALS14 (Amyotrophic lateral sclerosis) (VCP 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
Charcot-Marie-Tooth disease, type 2Y, 616687, Autosomal dominant; CMT2Y (Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation) (VCP 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
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320, Autosomal dominant; IBMPFD1 (Inclusion body myopathy with Paget disease of bone and frontotemporal dementia) (VCP gene) (Sequence Analysis-All Coding Exons) (Pos Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region 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

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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.