What is the Marfan Syndrome test test?
Marfana syndrome test is used to diagnose whether a person has this condition. Display tests such as echocardiogram or magnetic resonance imaging (MRI) can be performed for aortic examination. Genetic testing determines whether there are changes in the FBN1 gene usually associated with Marfan syndrome. There are several other types of Marfan syndrome tests along with display, such as tests on the structure of the eye and bone.
Marfan syndrome affects the connective tissue in the body. The condition affects many areas of the body, including heart, eyes and bones. Usually the condition is inherited and occurs due to malformation of the FBN1 gene, which is responsible for the connective tissue of the body. The symptoms and symptoms of the condition can be so mild that they are hardly noticeable.
Usually, more than one Marfan syndrome test should be performed on the patient to diagnose. The echocardiogram is usually the first Marfan syndrome test. The test is ultrasound and aorta. During the test, the size of the aorta will be recorded as a normal symptom of uMarfan's syndrome is enlarged and weak aorta.
Other imaging tests include MRI that helps doctors to look for the size and shape of the aorta. MRI also allows doctors to see a spinal column and look for dural ectassia or bulge in the spine, which is a common indicator of Marfan syndrome. A computer tomographic (CT) scan can also be done so that the doctor can look at the aort. MRI or CT scans may be needed if the echocardiogram does not clearly show the aort.
Since the condition also affects the eyes, another test of Marfana syndrome is the examination of slot lamps. The doctor uses this test to determine whether the patient's lens or retina is separated. During the procedure, the doctor puts the patient's eyes into the patient's eyes to expand the pupils so that the doctor can look into the eyes using microscrope as a slot lamp.
Other common tests include the view of the patient's bone structure. The doctor will measureThe skeleton of the patient and its span of the arm to help diagnose the condition. Patients with Marfan syndrome usually have a very wide range of arms.
There is a genetic test to determine whether it also has Marfan's syndrome. The test is usually performed only if the diagnosis cannot be performed using other tests. The blood sample is collected and examined for changes in FBN1 gene. Usually, genetic tests are more expensive than other options, but may be useful, especially if the person in the family has been diagnosed with Marfana syndrome.