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Results: 1 to 20 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Heart Disease Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2244
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NR2F2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Diaphragmatic Hernia Panel

PreventionGenetics, part of Exact Sciences
United States
11665
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital heart disease Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital heart disease Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital heart disease NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
115
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nonsyndromic Congenital Heart Disease Panel

PreventionGenetics, part of Exact Sciences
United States
5444
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital heart defects, multiple types, 4, 615779, Autosomal dominant; CHTD4 (Atrioventricular canal defect) (NR2F2 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

Congenital heart defects, multiple types, 4, 615779, Autosomal dominant; CHTD4 (Atrioventricular canal defect) (NR2F2 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

Congenital heart disease NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1415
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital heart disease Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1415
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital heart disease Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1415
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
11855
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Panel

Genetic Services Laboratory University of Chicago
United States
911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq® Cardio Single Gene Analysis

Integrated Genetics Westborough LabCorp
United States
55177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NR2F2

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 45

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.