Clinical and research tests for C3554330 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GenepoweRx_Nephro_Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	27	58	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
DGKE - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Atypical Hemolytic Uremic Syndrome (aHUS) Panel Centogene AG - the Rare Disease Company Germany	23	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel Invitae United States	81	57	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	754	562	D Deletion/duplication analysis
Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel Invitae United States	25	13	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	27	32	D Deletion/duplication analysis 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	27	32	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	27	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008, Autosomal recessive (Atypical hemolytic-uremic syndrome) (DGKE 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
Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008, Autosomal recessive (Atypical hemolytic-uremic syndrome) (DGKE 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
Nephrotic syndrome, type 7, 615008, Autosomal recessive; NPHS7 (Primary membranoproliferative glomerulonephritis) (DGKE 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
Nephrotic syndrome, type 7, 615008, Autosomal recessive; NPHS7 (Primary membranoproliferative glomerulonephritis) (DGKE 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
Invitae Progressive Renal Disease Panel Invitae 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
DGKE - membranoproliferative glomerulonephritis Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region

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