Clinical and research tests for C1832244 - 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
Neuromuscular Panel Centogene US, LLC - The Rare Disease Company United States	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy Panel Centogene US, LLC - The Rare Disease Company United States	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
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
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
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
Pan Cardiomyopathy Panel PreventionGenetics United States	113	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dilated Cardiomyopathy Panel PreventionGenetics United States	64	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypertrophic Cardiomyopathy Panel PreventionGenetics United States	61	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics United States	220	196	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Left Ventricular Noncompaction (LVNC) Panel PreventionGenetics United States	15	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)/Dysplasia Panel PreventionGenetics United States	17	17	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.