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Results: 21 to 40 of 78

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

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

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

Pulmonary Arterial Hypertension (PAH) via the BMPR2 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vascular Malformations Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2428
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BMPR2 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • D Deletion/duplication analysis

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

Congenital Heart Defects Panel 

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

Haematological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1344
  • C Sequence analysis of the entire coding region

Lung Disorders Panel 

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

Hereditary hemorrhagic telangiectasia (deletion/duplication analysis on ENG, ACVRL1 and BMPR2 genes)

CGC Genetics Unilabs
Portugal
13
  • D Deletion/duplication analysis

Primary pulmonary hypertension , Pulmonary venoocclusive disease (sequence analysis of BMPR2 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

SUDDEN DEATH/ IDIOPATHIC VENTRICULAR FIBRILLATION EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1394
  • E Sequence analysis of select exons

PULMONARY ARTERIAL HYPERTENSION EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
125
  • E Sequence analysis of select exons

Results: 21 to 40 of 78

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.