U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 39

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

NKX2-6 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

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

Persistent truncus arteriosus, 217095 (Conotruncal heart malformations) (NKX2-6 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

Conotruncal heart malformations, 217095; CTHM (Conotruncal heart malformations) (NKX2-6 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

Conotruncal heart malformations, 217095; CTHM (Conotruncal heart malformations) (NKX2-6 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • 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
10755
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq Cardio Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
55177
  • T Targeted variant analysis

GeneSeq® Cardio Single Gene Analysis

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

NKX2-6

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Clefting (WES based NGS panel of 231 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1231
  • C Sequence analysis of the entire coding region

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

Results: 1 to 20 of 39

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.