Clinical and research tests for C4310749 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoCardio Panel Centogene US, LLC - The Rare Disease Company United States	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene US, LLC - The Rare Disease Company United States	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Myofibrillar myopathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	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	20	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiomyopathy, familial restrictive 5, 617047, Autosomal dominant (Filaminopathy) (FLNC gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Cardiomyopathy, familial hypertrophic, 26; CMH26 (Filaminopathy) (FLNC gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	482	254	C Sequence analysis of the entire coding region
Myofibrillar myopathy and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Myofibrillar myopathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	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	20	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
Invitae Comprehensive Myopathy Panel Invitae United States	145	70	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	355	208	D Deletion/duplication analysis
Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel Invitae United States	135	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.