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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

Comprehensive Aortopathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
5448
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Marfan and Related Conditions Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3730
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Adams-Oliver syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
16
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Adams-Oliver syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
16
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Adams-Oliver syndrome Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
16
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PGmax™ - Comprehensive Congenital Heart Disease Panel

PreventionGenetics, part of Exact Sciences
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Adams-Oliver syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
16
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Adams-Oliver syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
16
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Adams-Oliver syndrome Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
16
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PGmax™ - Skeletal Disorders and Joint Problems Panel

PreventionGenetics, part of Exact Sciences
United States
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Adams-Oliver syndrome (WES based NGS panel of 6 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
16
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq: Cardio - Familial Aortopathy Panel

Integrated Genetics Westborough LabCorp
United States
1328
  • C Sequence analysis of the entire coding region

Adam-Oliver Syndrome

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
56
  • C Sequence analysis of the entire coding region

Leukodystrophy Xpanded Panel

GeneDx
United States
19293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb Abnormalities and Reduction Defects Panel

GeneDx
United States
2476
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prenatal Limb Abnormalities Panel

GeneDx
United States
95
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.