Clinical and research tests for C0265268 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Aortopathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	54	48	D Deletion/duplication analysis C Sequence analysis 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
Marfan and Related Conditions Panel Mayo Clinic Laboratories Mayo Clinic United States	37	30	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Adams-Oliver syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	6	C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGmax™ - Comprehensive Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	6	C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGmax™ - Skeletal Disorders and Joint Problems Panel PreventionGenetics, part of Exact Sciences United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome (WES based NGS panel of 6 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	6	C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
GeneSeq: Cardio - Familial Aortopathy Panel Integrated Genetics Westborough LabCorp United States	13	28	C Sequence analysis of the entire coding region
Adam-Oliver Syndrome Genetics Laboratory University of Oklahoma Health Sciences Center United States	5	6	C Sequence analysis of the entire coding region
Leukodystrophy Xpanded Panel GeneDx United States	19	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Limb Abnormalities and Reduction Defects Panel GeneDx United States	24	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal disorders - different panels Institute of Human Genetics Cologne University Germany	8	75	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.