Clinical and research tests for C3495537 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 33

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiology Sequencing- Congenital heart Disease Panel (24 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	24	24	X Mutation scanning of select exons
Cardiology Sequencing- Full Panel (174 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	122	174	X Mutation scanning of select exons
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
NODAL - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	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
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
Heterotaxy, visceral, 5, 270100, Autosomal dominant; HTX5 (Heterotaxia) (NODAL gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Heterotaxy, visceral, 5, 270100, Autosomal dominant; HTX5 (Heterotaxia) (NODAL 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
Heterotaxy, visceral, 5, 270100, Autosomal dominant; HTX5 (Heterotaxia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Heterotaxy, visceral, 5, 270100, Autosomal dominant; HTX5 (Heterotaxia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication 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
Invitae Congenital Heart Disease Panel Invitae United States	107	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Heterotaxy, Visceral 5 (HTX5) via the NODAL 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
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
NODAL Institute for Human Genetics University Medical Center Freiburg Germany	1	1	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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 33

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.