Short Description

NGS genetic DNA test detecets for variant and mutation detection in TGFBR2 gene for Loeys-Dietz syndrome type 1B

PreTest Information

Clinical History of Patient who is going for TGFBR2 Gene Loeys-Dietz syndrome type 1B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TGFBR2 Gene Loeys-Dietz syndrome type 1B NGS Genetic DNA Test gene TGFBR2

Detail Description

TGFBR2 Gene Loeys-Dietz Syndrome Type 1B NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Loeys-Dietz Syndrome (LDS) is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in the genes that are responsible for the formation of the extracellular matrix and the structural proteins in the tissues. One of the genes that are commonly associated with LDS is the TGFBR2 gene.

Symptoms of Loeys-Dietz Syndrome Type 1B

The symptoms of Loeys-Dietz Syndrome Type 1B can vary from person to person, but some of the common symptoms include:

• Abnormalities in the shape and structure of the skull
• Abnormalities in the structure and function of the heart and blood vessels
• Joint hypermobility
• Soft, velvety, and stretchy skin
• Abnormal scarring
• Abnormalities in the structure and function of the eyes
• Developmental delays and learning disabilities

Diagnosis of Loeys-Dietz Syndrome Type 1B

The diagnosis of Loeys-Dietz Syndrome Type 1B is usually made based on the presence of the characteristic symptoms and a genetic test. The genetic test involves the analysis of the TGFBR2 gene for mutations that are known to be associated with the disorder. The test is usually done using Next Generation Sequencing (NGS) technology, which allows for the analysis of multiple genes at the same time.

Cost of the TGFBR2 Gene Loeys-Dietz Syndrome Type 1B NGS Genetic DNA Test

The cost of the TGFBR2 Gene Loeys-Dietz Syndrome Type 1B NGS Genetic DNA Test in India is INR 20000. This cost may vary depending on the laboratory and location where the test is being done. It is important to note that this test may not be covered by insurance, and patients should check with their insurance provider before getting the test.

Why Choose DNA Labs India for the TGFBR2 Gene Loeys-Dietz Syndrome Type 1B NGS Genetic DNA Test?

At DNA Labs India, we use state-of-the-art Next Generation Sequencing (NGS) technology to analyze the TGFBR2 gene for mutations that are associated with Loeys-Dietz Syndrome Type 1B. Our team of experienced and highly trained geneticists and technicians ensures accurate and reliable results. We also provide genetic counseling services to help patients and their families understand the implications of the test results.

Conclusion

The TGFBR2 Gene Loeys-Dietz Syndrome Type 1B NGS Genetic DNA Test is an important diagnostic tool for identifying mutations in the TGFBR2 gene that are associated with Loeys-Dietz Syndrome Type 1B. At DNA Labs India, we offer this test at a cost of INR 20000, using state-of-the-art technology and a team of experienced geneticists and technicians. If you or someone you know is experiencing symptoms of Loeys-Dietz Syndrome Type 1B, contact us today to learn more about the test and our services.

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 TGFBR2 Gene Loeys-Dietz syndrome type 1B NGS Genetic DNA Test