Clinical and research tests for C3714934 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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
Limb girdle muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	35	C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	19	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	19	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Limb girdle muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lysosomal Storage Disorders Panel PreventionGenetics United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Limb girdle muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	35	C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	19	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Limb girdle muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	19	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuromuscular Panel PreventionGenetics United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Limb Girdle Muscular Dystrophy (LGMD) Panel PreventionGenetics United States	33	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Myopathy Panel PreventionGenetics United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myotilinopathy via the MYOT Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

Results: 1 to 15 of 15

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.