Clinical and research tests for C0010495 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

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
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States	37	131	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons 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
Carpenter Syndrome NGS Panel Fulgent Genetics United States	45	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis NGS Panel Fulgent Genetics United States	339	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeria and Progeroid Syndromes Panel Blueprint Genetics Finland	4	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cutis Laxa Panel Blueprint Genetics Finland	2	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MEGF8 Single Gene Fulgent Genetics United States	45	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAM120AOS Single Gene Fulgent Genetics United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel - Cutis laxa Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	5	8	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
NGS panel - Aortic or arterial dilatation / dissection Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	11	21	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	14	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	14	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ELN - Gene Sequencing & Del/Dup analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	3	1	D Deletion/duplication analysis E Sequence analysis of select exons T Targeted variant analysis
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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