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Results: 21 to 40 of 50

Tests names and labsConditionsGenes, analytes, and microbesMethods

Joubert syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3737
  • 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

Joubert and Meckel-Gruber Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
4338
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NPHP3 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • D Deletion/duplication analysis

Meckel syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1513
  • C Sequence analysis of the entire coding region

Expanded Polycystic Kidney Disease NGS Panel

Fulgent Genetics
United States
6134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Heart Defect NGS Panel

Fulgent Genetics
United States
377114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

Molecular Vision Laboratory
United States
4824
  • C Sequence analysis of the entire coding region

Liver Diseases Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
7172
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Heart Defects and Heterotaxy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing NPHP3

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

Meckel Syndrome Panel

CeGaT GmbH
Germany
1112
  • C Sequence analysis of the entire coding region

Heterotaxy Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
156114
  • C Sequence analysis of the entire coding region

NPHP3 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Ciliopathies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
144102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Joubert and Meckel-Gruber Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis NGS Panel

Fulgent Genetics
United States
12166
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 50

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.