Short Description

NGS genetic DNA test detecets for variant and mutation detection in TGFB2 gene for Loeys-Dietz syndrome type 4

PreTest Information

Clinical History of Patient who is going for TGFB2 Gene Loeys-Dietz syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TGFB2 Gene Loeys-Dietz syndrome type 4 NGS Genetic DNA Test gene TGFB2

Detail Description

TGFB2 Gene Loeys-Dietz Syndrome Type 4 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Loeys-Dietz Syndrome Type 4 is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in the TGFB2 gene, which provides instructions for making a protein called transforming growth factor beta-2 (TGFβ2). This protein is involved in the growth and maintenance of tissues throughout the body, including the heart, blood vessels, bones, and skin.

Individuals with Loeys-Dietz Syndrome Type 4 may experience a wide range of symptoms that can vary in severity. Some common symptoms include:

• Abnormalities of the heart and blood vessels
• Joint hypermobility
• Soft, velvety skin that is easily bruised
• Widening or bulging of the blood vessels in the head and neck

Diagnosis of Loeys-Dietz Syndrome Type 4 typically involves a physical examination, medical history review, and genetic testing. The NGS Genetic DNA Test is the most commonly used test for detecting mutations in the TGFB2 gene. This test is performed by taking a sample of the patient's blood or saliva and analyzing it for genetic changes that are associated with the disorder. The cost of this test is INR:20000.

If you or a loved one is experiencing symptoms of Loeys-Dietz Syndrome Type 4, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help manage symptoms and prevent complications. DNA Labs India offers a wide range of genetic testing services, including the NGS Genetic DNA Test for Loeys-Dietz Syndrome Type 4. Contact us today to learn more.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TGFB2 Gene Loeys-Dietz syndrome type 4 NGS Genetic DNA Test