Clinical and research tests for C2676723 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	123	129	E Sequence analysis of select exons
KCNE1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KCNE1 - 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
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Long QT Syndrome Panel PreventionGenetics United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Long QT syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	26	19	C Sequence analysis of the entire coding region T Targeted variant analysis
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
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
Jervell and Lange-Nielsen syndrome 2, 612347, Autosomal recessive; JLNS2 (Familial long QT syndrome) (KCNE1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre 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
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States	356	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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	237	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CardioNext® Ambry Genetics United States	190	92	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 NGS panel HNL Genomics Connective Tissue Gene Tests United States	26	19	C Sequence analysis of the entire coding region T Targeted variant analysis
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 United States	63	49	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Invitae United States	240	100	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.