Clinical and research tests for 603220 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KCNK3 - 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
Pulmonary Panel Centogene AG - the Rare Disease Company Germany	99	101	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
Pulmonary hypertension, primary, 4, 615344, Autosomal dominant; PPH4 (Idiopathic and/or familial pulmonary arterial hypertension) (KCNK3 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
Pulmonary hypertension, primary, 4, 615344, Autosomal dominant; PPH4 (Idiopathic and/or familial pulmonary arterial hypertension) (KCNK3 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
Pulmonary Arterial Hypertension (PAH) Panel PreventionGenetics, part of Exact Sciences United States	10	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	162	129	C Sequence analysis of the entire coding region
Vascular malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary hypertension Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary hypertension Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vascular malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary hypertension NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	9	C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	224	202	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Pulmonary Arterial Hypertension Panel Labcorp Genetics (formerly Invitae) LabCorp United States	15	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiac Arrhythmia Panel PreventionGenetics, part of Exact Sciences United States	79	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular Malformations Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	24	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary hypertension, primary (panel NGS basado en WES de 11 genes, incluyendo análisis de CNVs) CGC Genetics Unilabs Portugal	1	11	C Sequence analysis of the entire coding region
Arrythmia Panel CGC Genetics Unilabs Portugal	1	79	C Sequence analysis of the entire coding region
Lung Disorders Panel CGC Genetics Unilabs Portugal	1	107	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.