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Results: 1 to 20 of 120

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Hemorrhagic Telangiectasia

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

ACVRL1 Gene Telangiectasia, hereditary hemorrhagic, type 2 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

HHT and Vascular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
712
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebrovascular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

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

Rapid microarray (CGH and SNP)

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

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
155107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ACVRL1 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • 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

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • 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

OmniSeq INSIGHT

OmniSeq, Inc.
United States
1525
  • R RNA 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

Telangiectasia, hereditary hemorrhagic, type 2, 600376, Autosomal dominant; HHT2 (Hereditary hemorrhagic telangiectasia) (ACVRL1 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

Telangiectasia, hereditary hemorrhagic, type 2, 600376, Autosomal dominant; HHT2 (Hereditary hemorrhagic telangiectasia) (MLPA)

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

Results: 1 to 20 of 120

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.