Diagnostic Tests

Loeys Dietz Syndrome


Loeys Dietz Syndrome

Also known as Loeys Dietz Syndrome Gene Testing Blood
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What is this test?

Loeys-Dietz syndrome (LDS) is a dominantly inherited systemic connective tissue disorder characterized by multiple variable abnormalities of the skeletal, cardiovascular, and skin systems. Morbidity and mortality in LDS are largely due to vascular complications from aortic aneurysms and dissections. LDS shows clinical overlap with Marfan syndrome and vascular Ehlers-Danlos syndrome, but may require earlier or more aggressive treatment, respectively. About 75% of LDS are associated with mutations in TGFBR2. Genetic testing can confirm a clinical diagnosis of LDS and allow for accurate identification of presymptomatic mutation carriers within affected families.

Test Preparation

No special preparation is needed for Loeys Dietz Syndrome. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Loeys Dietz Syndrome. Your doctor depending on your condition will give specific instructions.

Understanding your test results

GenderAge groupsValue
UNISEXAll age groupsMutations in TGFBR1, TGFBR2, SMAD3, TGFB2 are seen in positive cases
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