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Results: 1 to 20 of 53

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

UMOD - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cystic Kidney Disease Panel

Invitae
United States
9644
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Nephrolithiasis Panel

Invitae
United States
6640
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Hereditary Cystic Kidney Diseases Panel

PreventionGenetics, part of Exact Sciences
United States
4746
  • 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
33
  • 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
33
  • 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
33
  • 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
2922
  • 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
2922
  • 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
2821
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Purine Metabolism Disorders Panel

Invitae
United States
2618
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 53

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.