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Test ID: HHTGP    
Hereditary Hemorrhagic Telangiectasia Gene Panel, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT) or a related disorder

 

Second-tier testing for patients in whom previous targeted gene variant analyses for specific HHT genes were negative

 

Establishing a diagnosis of HHT and in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identifying variants within genes known to be associated with HHT and allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing as well as supplemental Sanger sequencing to evaluate the genes listed on this panel.

 

Additionally, NGS is used to test for the presence of large deletions and duplications in a subset of genes.

Highlights

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for variants in the ACVRL1, ENG, GDF2, RASA1, and SMAD4 genes.

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next Generation Sequencing followed by qPCR or Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Hereditary Hemorrhagic Telan Panel

Aliases Lists additional common names for a test, as an aid in searching

Activin A Receptor, Type II-Like I
ACVRL1
ALK1 Gene
Arteriovenous Malformations (AVM)
AVM (Arteriovenous Malformations)
Endoglin
ENG
GDF2
Hereditary Hemorrhagic Telangiectasia (HHT)
HHT (Hereditary Hemorrhagic Telangiectasia)
Myhre syndrome
Osler-Rendu-Weber (ORW) Disease
Osler-Weber-Rendu (OWR) Disease
OWR (Osler-Weber-Rendu) Disease
Parkes Weber Syndrome
RASA1
SMAD4
Telangiectasia
Next Gen Sequencing Test