Clinical and research tests for C3550903 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 13 of 13

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Diaphragmatic Hernia Panel PreventionGenetics United States	116	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel PreventionGenetics United States	43	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Rett Syndrome, Angelman Syndrome and Variant Syndromes Panel PreventionGenetics United States	27	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-Linked Intellectual Disability Panel PreventionGenetics United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Facial Dysostosis Related Disorders Panel PreventionGenetics United States	33	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange Syndrome Panel PreventionGenetics United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange Syndrome via the HDAC8 Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

Results: 1 to 13 of 13

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