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Results: 1 to 20 of 75 (representing 32 labs)

Tests names and labsConditionsGenes and analytesMethods

Hereditary hemorrhagic telangiectasia panel

Centogene AG - the Rare Disease Company
Germany
47
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive pulmonary disease panel

Centogene AG - the Rare Disease Company
Germany
5766
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary hemorrhagic telangiectasia type 1 - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary hemorrhagic telangiectasia type 1 (HHT1) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Hereditary hemorrhagic telangiectasia type 1 (HHT1) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary Hypertension Panel (5 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
65
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PulmoGene Panel (64 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
6964
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Hemorrhagic Telangiectasia

Impact Genetics Inc.
Canada
53
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Hereditary hemorrhagic telangiectasia Panel

Health in Code S.L.
Spain
19
  • C Sequence analysis of the entire coding region

Hereditary Haemorrhagic Telangiectasia Panel

Health in Code S.L.
Spain
16
  • C Sequence analysis of the entire coding region

ACVRL1, ENG, BMPR2. MLPA testing

Instituto de Medicina Genomica
Spain
33
  • D Deletion/duplication analysis

ENG. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) / Osler-Weber-Rendu Disease via the ENG Gene

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

Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
1114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary hemorrhagic telangiectasia - ENG Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

HHTFirst

Ambry Genetics
United States
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Hemorrhagic Telangiectasia

Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 75

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.

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