Clinical and research tests for C1567741 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FSGS/Nephrotic Syndrome Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	25	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alport Syndrome Gene Panel, Varies Mayo Clinic Laboratories Mayo Clinic United States	1	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	287	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alport syndrome Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	4	3	C Sequence analysis of the entire coding region
Alport syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Alport syndrome Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alport syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Alport syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Alport syndrome Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alport syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Alport syndrome panel Collagen Diagnostic Laboratory University of Washington United States	6	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alport Syndrome (AS) Panel PreventionGenetics, part of Exact Sciences United States	6	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
OtoGenome Test for Hearing Loss (110 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	23	109	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Alport Syndrome (AS) via the COL4A5 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
Alport Syndrome (AS) via the COL4A4 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
Alport Syndrome (AS) via the COL4A3 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
COL4A5 Institute of Human Genetics Medical University Innsbruck Austria	3	1	C Sequence analysis of the entire coding region
COL4A4 Institute of Human Genetics Medical University Innsbruck Austria	4	1	C Sequence analysis of the entire coding region
COL4A3 Institute of Human Genetics Medical University Innsbruck Austria	4	1	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.