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Results: 1 to 20 of 46

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

CRELD1 Gene Atrioventricular septal defect, partial with heterotaxy syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

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

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
224202
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Epilepsy panel_v.2.0

CGC Genetics Unilabs
Portugal
1759
  • C Sequence analysis of the entire coding region

Congenital Heart Defects Panel 

CGC Genetics Unilabs
Portugal
1208
  • C Sequence analysis of the entire coding region

Congenic cardiopatics (deletion/duplication analysis of (GATA4, NKX2-5, TBX5, BMP4 and CRELD1 genes)

CGC Genetics Unilabs
Portugal
15
  • D Deletion/duplication analysis

Results: 1 to 20 of 46

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.