Clinical and research tests for 606936 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SMARCAD1 Gene Adermatoglyphia NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Cardiology Sequencing- Arrhythmia Comprehensive Panel (134 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	88	134	X Mutation scanning of select exons
Cardiology Sequencing- Full Panel (174 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	122	174	X Mutation scanning of select exons
MT-TE Gene Mitochondrial myopathy, infantile, transient, MT-TE related NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
TRPM4 Gene Progressive familial heart block NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GenepoweRx_Cardiac Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	63	102	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
TRPM4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	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
Cardiac channelopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	41	C Sequence analysis of the entire coding region T Targeted variant analysis
Atrioventricular block Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiac channelopathy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atrioventricular block NGS Panel HNL Genomics Connective Tissue Gene Tests United States	1	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada syndrome and related disorders Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brugada syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Atrioventricular block Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progressive familial heart block, type IB, 604559, Autosomal dominant; PFHB1B (Familial progressive cardiac conduction defect) (TRPM4 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
Cardiac channelopathies panel Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS Italy	9	33	S Mutation scanning of the entire coding region
RhythmNext® Ambry Genetics United States	91	42	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.