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Results: 1 to 20 of 87 (representing 25 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoColon extended panel

Centogene AG - the Rare Disease Company
Germany
1917
  • C Sequence analysis of the entire coding region

CentoCancer panel

Centogene AG - the Rare Disease Company
Germany
5231
  • C Sequence analysis of the entire coding region

Hereditary hemorrhagic telangiectasia panel

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

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome - Sanger / Del Dup Comprehensive

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

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT) - Deletion/Duplication

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

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT) - Sanger Sequencing

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

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • 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

Comprehensive Cardiology Sequencing Panel

PreventionGenetics
United States
190164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vistaseq Hereditary Cancer Panel Without BRCA

Molecular Diagnostic Laboratory LabCorp
United States
1725
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VistaSeq Hereditary Cancer Panel

Molecular Diagnostic Laboratory LabCorp
United States
1827
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aortic diseases Panel

Health in Code
Spain
7135
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

Health in Code
Spain
6030
  • C Sequence analysis of the entire coding region

Colorectal Cancer Sequencing And Deletion/Duplication Panel

PreventionGenetics
United States
2117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cancer Sequencing and Deletion/Duplication Panel

PreventionGenetics
United States
4335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) via the SMAD4 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

Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
2021
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SMAD4

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 87

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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