Clinical and research tests for SLC22A12 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	299	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Renal Stone/Electrolyte Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	82	71	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
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
NephrolithiasisNext™ Ambry Genetics United States	1	31	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
Hypouricemia, renal, 220150, Autosomal recessive; RHUC1 (Hereditary renal hypouricemia) (SLC22A12 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
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
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
Genomic Unity® Renal Disorders Analysis Variantyx, Inc. United States	1	425	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Rhabdomyolysis and metabolic muscle diseases (WES based NGS panel of 55 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	55	C Sequence analysis of the entire coding region
Renal calcifications (nephrocalcinosis) (NGS panel of 36 genes, including CNV analysis)) CGC Genetics Unilabs Portugal	1	36	C Sequence analysis of the entire coding region

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