Marfan Syndrome - TAAD and Related Disorders Genetic Testing Test

Marfan syndrome happens due to the genetic mutation where the FBN1 gene is mutated. This syndrome can affect the multiple organs due to the connectivity tissue disorder. When there is malfunctioning in the skeletal features like chest malformations, tall stature, increased joint mobility, and scoliosis, then Marfan disorder test is done using the different major and minor clinical operations. With this test, the other disorders like Loeys-Dietz syndrome, thoracic aortic aneurysm, and dissections, or a related disorder are also detected because they all happen due to the genetic mutations.

There is no particular preparation such as fasting, or dietary change is required for the test. You need to tell your doctor different medical conditions that you have and the various medicines that you are taking. Based on them the doctor will instruct you and these instructions should be followed for an accurate result. While giving the blood sample, it is essential that the clothing is comfortable so that the doctor can take the blood easily and quickly.

These are variants of the different gene that are tested in the test: CTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2 genes. With the help of electronic data, the mutation in the different genes is studied to give the result. However, for the Marfan syndrome happens due to the mutation in FBN1. Similarly, the LDS syndrome occurred due to the mutation in TGFBR1, and TGFBR2 genes. In families with multiple self-healing squamous epithelioma (MSSE), TGFBR1 gene is mutated.

The method that is used for the genetic testing of Marfan syndrome is Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing. First of all, a whole blood sample is collected in an EDTA tube (Lavender EDTA Tube) to prevent clotting. Unless the blood sample reaches the lab, it is kept safely in the EDTA tube and then sent to the original test tube. From the blood sample, the genetic material is extracted. Then with the help of the polymerase chain reaction, the genetic material is replicated for multiple tests. Then using the Supplemental Sanger sequencing, a computerized analysis is done on the sample to know which of different DNA variants is responsible for the syndrome.