Clinical and research tests for C3280939 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Monogenic Diabetes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States	116	65	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
Atrioventricular septal defect 5, 614474, Autosomal dominant (Atrioventricular canal defect) (GATA6 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 Congenital Heart Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	118	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Congenital structural heart disease panel. NGS panel of 62 genes. Genologica Medica Spain	113	62	C Sequence analysis of the entire coding region
Arrhythmia panel. NGS panel of 55 genes. Genologica Medica Spain	128	55	C Sequence analysis of the entire coding region
Atrial fibrillation panel. NGS panel of 19 genes. Genologica Medica Spain	55	19	C Sequence analysis of the entire coding region
Comprehensive panel of monogenic diabetes. 28-gene NGS panel. Genologica Medica Spain	60	28	C Sequence analysis of the entire coding region
GATA6 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	5	1	D Deletion/duplication analysis
Atrioventricular septal defect: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	4	C Sequence analysis of the entire coding region
Structural Heart Disease NGS Panel Fulgent Genetics United States	73	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiomyopathy NGS Panel Fulgent Genetics United States	450	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	379	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing GATA6 CeGaT GmbH Germany	5	1	C Sequence analysis of the entire coding region
Heterotaxy Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	156	114	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.