Clinical and research tests for C4746745 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Alport syndrome, autosomal recessive, 203780, Autosomal recessive (Alport syndrome) (COL4A4 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
Alport syndrome, autosomal recessive, 203780, Autosomal recessive (Alport syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Alport syndrome, autosomal recessive, 203780, Autosomal recessive (Alport syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Alport syndrome, autosomal recessive, 203780, Autosomal recessive (Alport syndrome) (MLPA) 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL4A4-Related Alport Syndrome Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
COL4A3-Related Alport Syndrome Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
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
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
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
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	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.