Clinical and research tests for C1865019 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	122	128	E Sequence analysis of select exons
KCNQ1 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	3	1	D Deletion/duplication analysis C Sequence analysis 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
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication 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
Short QT syndrome 2, 609621, Autosomal dominant; SQT2 (Familial short QT syndrome) (KCNQ1 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
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Labcorp Genetics (formerly Invitae) LabCorp United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	220	75	D Deletion/duplication analysis 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, part of Exact Sciences United States	362	227	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	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 NGS panel HNL Genomics Connective Tissue Gene Tests United States	13	6	C Sequence analysis of the entire coding region T Targeted variant analysis
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

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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.