Clinical and research tests for 1288 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
COL4A6 Gene Deafness, X-linked type 6 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	299	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
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States	1	318	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AudioloGene Hearing Loss Panel Mayo Clinic Laboratories Mayo Clinic United States	1	200	C Sequence analysis of the entire coding region
COL4A6 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication analysis
Invitae Alport Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	9	6	D Deletion/duplication analysis 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
Invitae Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	361	224	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrotic syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	39	42	D Deletion/duplication analysis 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.