Short Description

NGS genetic DNA test detecets for variant and mutation detection in TGFBR1 gene for Loeys-Dietz syndrome type 2A

PreTest Information

Clinical History of Patient who is going for TGFBR1 Gene Loeys-Dietz syndrome type 2A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TGFBR1 Gene Loeys-Dietz syndrome type 2A NGS Genetic DNA Test gene TGFBR1

Detail Description

TGFBR1 Gene Loeys-Dietz Syndrome Type 2A NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Loeys-Dietz syndrome (LDS) is a rare genetic disorder that affects the connective tissue in the body. It is caused by mutations in the TGFBR1 gene, which codes for a protein that helps regulate cell growth and division. LDS type 2A is a subtype of the disorder that is specifically caused by mutations in the TGFBR1 gene.

NGS genetic DNA testing is a powerful tool that can be used to diagnose LDS type 2A. This type of testing is able to sequence the entire TGFBR1 gene and identify any mutations that may be present. The cost of this test is INR 20000.

Symptoms of LDS Type 2A

The symptoms of LDS type 2A can vary widely from person to person, but some of the most common symptoms include:

• Abnormalities of the heart and blood vessels
• Joint hypermobility
• Easy bruising and scarring
• Skeletal abnormalities
• Thin, translucent skin
• Eye problems, such as myopia and retinal detachment

It is important to note that not all individuals with LDS type 2A will experience all of these symptoms. In some cases, individuals may have only a few of the symptoms listed above.

Diagnosis of LDS Type 2A

Diagnosis of LDS type 2A typically involves a combination of clinical evaluation and genetic testing. A doctor will typically perform a physical exam and evaluate the patient's medical history to look for signs and symptoms of the disorder. If there is a suspicion of LDS type 2A, genetic testing will be recommended.

NGS genetic DNA testing is the most effective way to diagnose LDS type 2A. This test is able to sequence the entire TGFBR1 gene and identify any mutations that may be present. If a mutation is identified, this confirms a diagnosis of LDS type 2A.

Conclusion

LDS type 2A is a rare genetic disorder that can have a wide range of symptoms. NGS genetic DNA testing is the most effective way to diagnose this disorder, and the cost of this test is INR 20000. If you or a loved one are experiencing symptoms of LDS type 2A, it is important to speak with a doctor and consider genetic testing.

At DNA Labs India, we offer NGS genetic DNA testing for LDS type 2A and other genetic disorders. Our testing is accurate, reliable, and affordable. 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 TGFBR1 Gene Loeys-Dietz syndrome type 2A NGS Genetic DNA Test