Short Description

NGS genetic DNA test detecets for variant and mutation detection in TRPS1 gene for Langer-Giedion syndrome

PreTest Information

Clinical History of Patient who is going for TRPS1 Gene Langer-Giedion syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TRPS1 Gene Langer-Giedion syndrome NGS Genetic DNA Test gene TRPS1

Detail Description

TRPS1 Gene Langer-Giedion Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Langer-Giedion Syndrome (LGS), also known as Trichorhinophalangeal Syndrome Type II (TRPS II), is a rare genetic disorder that affects multiple organ systems in the body. It is caused by mutations in the TRPS1 gene, located on chromosome 8. The TRPS1 gene provides instructions for making a protein that plays a role in the development and maintenance of various tissues, including bone, cartilage, and skin.

Symptoms of Langer-Giedion Syndrome

The symptoms of Langer-Giedion Syndrome can vary widely from person to person, even among family members with the same mutation. Some of the most common symptoms include:

• Short stature
• Unusual facial features, such as a prominent forehead, a flat nasal bridge, and a small jaw
• Abnormalities of the fingers and toes, such as extra digits, shortened digits, or fused digits
• Skeletal abnormalities, including scoliosis and hip dysplasia
• Skin abnormalities, such as dry, scaly skin and small bumps on the skin
• Intellectual disability, which can range from mild to severe

Diagnosis of Langer-Giedion Syndrome

Diagnosing Langer-Giedion Syndrome can be challenging, as the symptoms can be variable and nonspecific. However, a genetic test can confirm the diagnosis by detecting mutations in the TRPS1 gene. Next-generation sequencing (NGS) is a powerful tool that can sequence large regions of the genome at once, making it an efficient and cost-effective method for genetic testing.

NGS Genetic DNA Test Cost INR:20000

DNA Labs India offers an NGS genetic DNA test for Langer-Giedion Syndrome at a cost of INR 20,000. This test uses state-of-the-art technology to sequence the entire TRPS1 gene, allowing for accurate detection of mutations that cause LGS. The test is performed using a small blood sample, and results are typically available within 2-3 weeks.

Conclusion

Langer-Giedion Syndrome is a rare genetic disorder that can cause a wide range of symptoms, including short stature, unusual facial features, and skeletal abnormalities. It is caused by mutations in the TRPS1 gene, which can be detected using an NGS genetic DNA test. DNA Labs India offers this test at a cost of INR 20,000, providing an accurate and cost-effective method for diagnosing LGS.

If you suspect that you or a loved one may have Langer-Giedion Syndrome, it is important to speak with a healthcare provider and consider genetic testing. Early diagnosis and management of symptoms can help improve outcomes and quality of life.

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 TRPS1 Gene Langer-Giedion syndrome NGS Genetic DNA Test