Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing

Test Information

Title
Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing
Lab
Category
Hematology
Test Name (CMS Title)
Hereditary Hemorrhagic Telangiectasia (HHT)
Gene/Platform/Region List
SMAD4
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnosis
Test Methodology
Sequencing
Methodology Notes
Gene Sequencing (Sanger - Robot)
Disease/Condition
Hereditary Hemorrhagic Telangiectasia (HHT), Osler-Weber-Rendu Disease, Juvenile Polyposis Syndrome JP/HHT syndrome

Last Updated: November 14, 2025

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