Clinical and research tests for C3806737 - 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
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis 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 Invitae United States	405	219	D Deletion/duplication analysis
Invitae Alport Syndrome Panel Invitae United States	9	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Deafness, X-linked 6, 300914, X-linked recessive; DFNX6 (X-linked non-syndromic sensorineural deafness type DFN) (440) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	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
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
Nephrotic syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	39	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrotic syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	39	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Deafness, X-linked 6 (DFNX6) via the COL4A6 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel PreventionGenetics, part of Exact Sciences United States	59	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Non-syndromic hearing loss panel. 95-gene NGS panel. Genologica Medica Spain	146	94	C Sequence analysis of the entire coding region
Alport syndrome panel. 6-gene NGS panel. Genologica Medica Spain	9	6	C Sequence analysis of the entire coding region
Alport Syndrome (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	5	5	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.