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Results: 21 to 40 of 88

Tests names and labsConditionsGenes, analytes, and microbesMethods

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
171137
  • C Sequence analysis of the entire coding region

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vascular malformations Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vascular malformations NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary hypertension Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary hypertension Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vascular malformations Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary hypertension NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary hemorrhagic telangiectasia (HHT)

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
89
  • D Deletion/duplication analysis

Congenital Generalized Lipodystrophy (CGL) Panel

PreventionGenetics, part of Exact Sciences
United States
339
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lipodystrophy and Heritable Pulmonary Arterial Hypertension via the CAV1 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
294481
  • C Sequence analysis of the entire coding region

Invitae Pulmonary Arterial Hypertension Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
1512
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lipodystrophy Panel

Genetic Services Laboratory University of Chicago
United States
1720
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Lipodystrophies and progeroid syndromes (WES based NGS panel of 25 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
125
  • C Sequence analysis of the entire coding region

Pulmonary hypertension, primary (panel NGS basado en WES de 11 genes, incluyendo análisis de CNVs)

CGC Genetics Unilabs
Portugal
111
  • C Sequence analysis of the entire coding region

Lung Disorders Panel 

CGC Genetics Unilabs
Portugal
1107
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Progeroid syndromes (NGS panel for 12 genes)

CGC Genetics Unilabs
Portugal
112
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 88

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.