Clinical and research tests for C3542024 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Marfan Syndrome and Related Aortopathies Panel PreventionGenetics, part of Exact Sciences United States	40	38	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
Aortic valve disease 2, 614823, Autosomal dominant; AOVD2 (Familial bicuspid aortic valve) (SMAD6 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 Invitae United States	107	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SMAD6 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Aortic valve disease 2 (sequence analysis of SMAD6 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Marfan syndrome panel. 30-gene NGS panel. Genologica Medica Spain	71	30	C Sequence analysis of the entire coding region
Aortic disease panel. 41-gene NGS panel. Genologica Medica Spain	94	41	C Sequence analysis of the entire coding region
Connective tissue / Aortopathies panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	35	35	C Sequence analysis of the entire coding region
Aortic valve disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	44	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SMAD6 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis Asper Biogene Asper Biogene LLC Estonia	38	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defects Panel CeGaT GmbH Germany	42	44	C Sequence analysis of the entire coding region
Aortic valve disease, NOTCH1 Center for Human Genetics, Inc United States	1	1	C Sequence analysis of the entire coding region
SMAD6 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiovascular NGS Panel Fulgent Genetics United States	671	250	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.