Clinical and research tests for C1970119 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ANK2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	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
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Long QT Syndrome Panel PreventionGenetics, part of Exact Sciences United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac arrhythmia, ankyrin-B-related, 600919, Autosomal dominant (Familial long QT syndrome) (ANK2 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
Long QT syndrome 4, 600919, Autosomal dominant (Familial long QT syndrome) (ANK2 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
LongQTNext™ Ambry Genetics United States	33	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RhythmNext® Ambry Genetics United States	91	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CardioNext® Ambry Genetics United States	189	92	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital heart disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	14	15	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	14	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	14	15	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	18	26	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	18	26	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	18	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sudden Cardiac Arrest Panel PreventionGenetics, part of Exact Sciences United States	63	49	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	223	198	D Deletion/duplication 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.