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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

GDF2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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
United States
345159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hemorrhagic telangiectasia NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
35
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
35
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Hemorrhagic telangiectasia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
35
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Telangiectasia, hereditary hemorrhagic, type 5, 615506, Autosomal dominant; HHT5 (Hereditary hemorrhagic telangiectasia) (GDF2 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 Arterial Hypertension (PAH) Panel

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

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Invitae
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
163128
  • C Sequence analysis of the entire coding region

HHTNext®

Ambry Genetics
United States
106
  • D Deletion/duplication analysis
  • 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

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

Hereditary Hemorrhagic telangiectasia NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
35
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
35
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Hemorrhagic telangiectasia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
35
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Pulmonary Arterial Hypertension Panel

Invitae
United States
1512
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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.