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Results: 61 to 80 of 83

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing NPHP1

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

Bardet-Biedl syndrome panel

Molecular Vision Laboratory
United States
3823
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

Nephronophthisis Panel

CeGaT GmbH
Germany
1819
  • C Sequence analysis of the entire coding region

NPHP1 Single Gene

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

NPH1 (FJN) Molecular Analysis

Athena Diagnostics
United States
11
  • D Deletion/duplication analysis

Invitae Ciliopathies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
144102
  • 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

Congenital Hepatic Fibrosis NGS Panel

Fulgent Genetics
United States
4734
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa NGS Panel

Fulgent Genetics
United States
329124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Senior-Loken Syndrome NGS Panel

Fulgent Genetics
United States
145
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephronophthisis NGS Panel

Fulgent Genetics
United States
2812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert and Meckel NGS Panel

Fulgent Genetics
United States
11023
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 61 to 80 of 83

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.