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Results: 1 to 20 of 25

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cardiology Sequencing- Congenital heart Disease Panel (24 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
2424
  • X Mutation scanning of select exons

Cardiology Sequencing- Full Panel (174 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
122174
  • X Mutation scanning of select exons

Aortic diseases Panel

Health in Code
Spain
7135
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

CRELD1 - 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

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

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

Atrioventricular septal defect, susceptibility to, 2, 606217, Autosomal dominant; AVSD2 (Atrioventricular canal defect) (CRELD1 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

Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217, Autosomal dominant; AVSD2 (Atrioventricular canal defect) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Atrioventricular septal defect, susceptibility to, 2, 606217, Autosomal dominant; AVSD2 (Atrioventricular canal defect) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217, Autosomal dominant; AVSD2 (Atrioventricular canal defect) (CRELD1 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

Comprehensive Cardiology Panel

PreventionGenetics, Part of Exact Sciences
United States
220196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Heart Disease Panel

Invitae
United States
10755
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital structural heart disease panel. NGS panel of 62 genes.

Genologica Medica
Spain
11362
  • C Sequence analysis of the entire coding region

CRELD1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Atrioventricular septal defect: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
54
  • 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

Results: 1 to 20 of 25

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.