Clinical and research tests for 603621 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FOXH1 Gene Congenital heart disease and transposition of the great arteries NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Congenital Heart Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	22	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	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
Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel PreventionGenetics, part of Exact Sciences United States	43	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nonsyndromic Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	54	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Heart Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	107	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ventricular Septal Defects, Tetralogy of Fallot via the FOXH1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
Ciliopathy Panel PreventionGenetics, part of Exact Sciences United States	135	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel PreventionGenetics, part of Exact Sciences United States	10	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneSeq Cardio Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	55	177	T Targeted variant analysis
GeneSeq® Cardio Single Gene Analysis Integrated Genetics Westborough LabCorp United States	55	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
GeneSeq® Cardio: Familial Congenital Heart Disease Panel Integrated Genetics Westborough LabCorp United States	8	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GLOBAL CILIOPATHIES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	273	E Sequence analysis of select exons
HOLOPROSENCEPHALY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	18	E Sequence analysis of select exons
SUDDEN DEATH/ IDIOPATHIC VENTRICULAR FIBRILLATION EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	394	E Sequence analysis of select exons
Comprehensive Eye panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	695	C Sequence analysis of the entire coding region
HETEROTAXY & SITUS INVERSUS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	41	E Sequence analysis of select exons

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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.