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Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pulmonary venoocclusive disease 1, 265450, Autosomal dominant; PVOD1 (Pulmonary venoocclusive disease) (BMPR2 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

Pulmonary venoocclusive disease 1, 265450, Autosomal dominant; PVOD1 (Pulmonary venoocclusive disease) (MLPA)

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

BMPR2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • 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

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary Arterial Hypertension (PAH) Panel

PreventionGenetics, part of Exact Sciences
United States
1011
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Genetic Health Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PulmZoom

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

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

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

BMPR2 MLPA

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

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

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

Pulmonary arterial hypertension panel. 12-gene NGS panel.

Genologica Medica
Spain
1912
  • C Sequence analysis of the entire coding region

BMPR2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

Pulmonary venoocclusive disease: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.