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Results: 1 to 20 of 22

Tests names and labsConditionsGenes, analytes, and microbesMethods

Bcell/Antibody Deficiency GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
7961
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

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

SEC61A1 - 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 Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Cystic Kidney Disease Panel

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

Hyperuricemic nephropathy, familial juvenile, 4, 617056, Autosomal dominant (SEC61A1 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

Invitae Progressive Renal Disease Panel

Invitae
United States
310195
  • D Deletion/duplication analysis

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 Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Agammaglobulinemia Panel

Invitae
United States
3936
  • D Deletion/duplication analysis

Hyperuricemic nephropathy, familial juvenile, 4

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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.