Clinical and research tests for C2697932 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
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
Cerebrovascular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	23	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Standard Loeys-Dietz syndrome Health in Code Spain	1	2	C Sequence analysis of the entire coding region
Hereditary Heart Health Test Color Diagnostics, LLC DBA Color Health United States	19	30	C Sequence analysis of the entire coding region
PRKG1 Sequencing John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine United States	2	1	C Sequence analysis of the entire coding region
Hereditary Disease Risk Test Color Diagnostics, LLC DBA Color Health United States	51	59	C Sequence analysis of the entire coding region
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
GeneSeq: Cardio - Familial Arrhythmia Panel Integrated Genetics Westborough LabCorp United States	9	51	C Sequence analysis of the entire coding region
Loeys-Dietz Syndrome Core Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	1	2	C Sequence analysis of the entire coding region
Custom Heritable Disorders of Connective Tissue Panel GeneDx United States	4	270	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rest of Heritable Disorders of Connective Tissue after Marfan/TAAD Sequencing and Del/Dup Panel GeneDx United States	15	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Custom Cardiology Sequencing and Del/Dup Panel GeneDx United States	30	270	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Loeys-Dietz syndrome Institute of Human Genetics Cologne University Germany	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Loeys-Dietz syndrome - full panel CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Canada	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Loeys-Dietz Syndrome: gene deletion/duplication CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	4	C Sequence analysis of the entire coding region
Marfan syndrome, EDS and other connective tissue disorders - different panels Institute of Human Genetics Cologne University Germany	10	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TGFBR1 Gene, entire coding region or targeted variant Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Canada	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis

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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.