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Results: 21 to 40 of 66

Tests names and labsConditionsGenes, analytes, and microbesMethods

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • 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
3231
  • 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
3231
  • 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
3231
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amelogenesis and Dentinogenesis Imperfecta Panel

PreventionGenetics, part of Exact Sciences
United States
2834
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypomagnesemia Panel

PreventionGenetics, part of Exact Sciences
United States
1616
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephrolithiasis and Nephrocalcinosis Panel

PreventionGenetics, part of Exact Sciences
United States
3330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Renal Hypomagnesemia 5 via the CLDN19 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • 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
1425
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Hypomagnesemia (WES based NGS panel of 17 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
117
  • C Sequence analysis of the entire coding region

Renal calcifications (nephrocalcinosis) (NGS panel of 36 genes, including CNV analysis))

CGC Genetics Unilabs
Portugal
136
  • C Sequence analysis of the entire coding region

Nephrology Panel 

CGC Genetics Unilabs
Portugal
1334
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia and Coloboma Panel 

CGC Genetics Unilabs
Portugal
191
  • C Sequence analysis of the entire coding region

Hypomagnesemia type 5 (sequence analysis of CLDN19 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Kidney Function Disorders Panel

Mendelics
Brazil
123
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 66

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.