Clinical and research tests for C1563715 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Short QT syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	13	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short QT syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	13	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Long QT syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	26	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Long QT syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	26	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Primary Periodic Paralysis Panel PreventionGenetics, part of Exact Sciences United States	4	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Invitae United States	239	100	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Arrhythmia Comprehensive Panel Invitae United States	115	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiac Arrhythmia Panel PreventionGenetics, part of Exact Sciences United States	77	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
KCNJ2 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	3	1	D Deletion/duplication analysis
KCNJ2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
Periodic Paralysis Panel GeneDx United States	3	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	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.