Clinical and research tests for C4551496 - 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
UMOD - 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
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
Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel Invitae United States	67	41	D Deletion/duplication analysis
Invitae Cystic Kidney Disease Panel Invitae United States	96	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Nephrolithiasis Panel Invitae United States	66	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (Autosomal dominant medullary cystic kidney disease with or without hyperuricemia) (UMOD 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
Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (Autosomal dominant medullary cystic kidney disease with or without hyperuricemia) (UMOD 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
Hyperuricemic nephropathy, familial juvenile 1, 162000, Autosomal dominant; HNFJ1 (Familial juvenile hyperuricemic nephropathy type 1) (UMOD 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
Medullary cystic kidney disease 2, 603860; MCKD2 (Autosomal dominant medullary cystic kidney disease with or without hyperuricemia) (UMOD 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
Medullary cystic kidney disease 2, 603860; MCKD2 (Autosomal dominant medullary cystic kidney disease with or without hyperuricemia) (UMOD 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
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 Cystic Kidney Diseases Panel PreventionGenetics, part of Exact Sciences United States	47	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyperuricemic nephropathy, familial juvenile NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polycystic kidney disease and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	29	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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