Clinical and research tests for C1864498 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Renal Tubular Disorders Panel Invitae United States	68	39	D Deletion/duplication analysis
Nephrolithiasis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	32	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephrolithiasis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	32	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrolithiasis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	32	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Nephrolithiasis Panel Invitae United States	66	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Renal tubular acidosis, distal, autosomal recessive, 602722; RTADR (Distal renal tubular acidosis) (ATP6V0A4 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
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
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
Polycystic kidney disease and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	29	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polycystic kidney disease and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	28	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrolithiasis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	32	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephrolithiasis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	32	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrolithiasis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	32	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrolithiasis and Nephrocalcinosis Panel PreventionGenetics, part of Exact Sciences United States	33	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Renal Tubular Acidosis Panel PreventionGenetics, part of Exact Sciences United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Renal Tubular Acidosis, Autosomal Recessive, via the ATP6V0A4 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
Renal tubular acidosis panel. Panel NGS genes: ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4. Genologica Medica Spain	15	5	C Sequence analysis of the entire coding region
Renal Tubular Acidosis NGS Panel Fulgent Genetics United States	8	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Abnormal Mineralization NGS Panel Fulgent Genetics United States	77	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Kidney Stone Panel Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic United States	21	144	C Sequence analysis of the entire coding region

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