Clinical and research tests for C1837203 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
SNAI2 - 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
Waardenburg syndrome, type 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (SNAI2 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 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (SNAI2 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
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
Waardenburg Syndrome Type IID via the SNAI2 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg syndrome, type 2D (sequence analysis of SNAI2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Waardenburg syndrome Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	7	6	C Sequence analysis of the entire coding region
Waardenburg syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	10	7	C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hearing Loss Advanced Sequencing and CNV Evaluation Athena Diagnostics Inc United States	249	184	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes Reference Laboratory Genetics Spain	8	6	C Sequence analysis of the entire coding region
WAARDENBURG SYNDROME TYPE 2 Laboratorio de Genetica Clinica SL Spain	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg Syndrome Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	9	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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