Loeys-Dietz Syndrome

Test Information

Title
Loeys-Dietz Syndrome
Lab
Category
Cardiogenetics, Connective Tissue
Test Name (CMS Title)
Loeys-Dietz Syndrome
Gene/Platform/Region List
SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Test type
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Oligonucleotide based target capture, sanger sequencing for any clinically significant regions that are not captured and/or have insufficient coverage, MLPA (TGFBR1 and TGFBR2).
Disease/Condition
Loeys-Dietz Syndrome, Loeys-Dietz Aortic Aneurysm Syndrome, Marfan syndrome type 2

Last Updated: November 14, 2025

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