Clinical and research tests for C2750457 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	288	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
EDN3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypopigmentation Panel Invitae United States	83	46	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg syndrome, type 4B, 613265, Autosomal recessive, Autosomal dominant; WS4B (Waardenburg-Shah syndrome) (EDN3 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Waardenburg syndrome, type 4B, 613265, Autosomal recessive, Autosomal dominant; WS4B (Waardenburg-Shah syndrome) (EDN3 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
Waardenburg syndrome, type 4B, 613265, Autosomal recessive, Autosomal dominant; WS4B (Waardenburg-Shah syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Waardenburg syndrome, type 4B, 613265, Autosomal recessive, Autosomal dominant; WS4B (Waardenburg-Shah syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypopigmentation Panel PreventionGenetics, part of Exact Sciences United States	39	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg Syndrome Panel PreventionGenetics, part of Exact Sciences United States	12	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hirschsprung Disease 4 (HSCR4) via the EDN3 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg Syndrome Type IVB via the EDN3 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
EDN3 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	2	1	D Deletion/duplication analysis
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	C Sequence analysis of the entire coding region

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