Short Description

NGS genetic DNA test detecets for variant and mutation detection in GPC3 gene for Simpson-Golabi-Behmel syndrome type 1

PreTest Information

Clinical History of Patient who is going for GPC3 Gene Simpson-Golabi-Behmel syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GPC3 Gene Simpson-Golabi-Behmel syndrome type 1

Detail Description

Discovering the GPC3 Gene: Understanding Simpson-Golabi-Behmel Syndrome Type 1

Simpson-Golabi-Behmel Syndrome Type 1 (SGBS1) is a rare genetic disorder that affects the growth and development of various organs and tissues in the body. It is caused by mutations in the GPC3 gene, which provides instructions for making a protein that plays a role in regulating cell growth and division. SGBS1 is an X-linked condition, which means that it primarily affects males and is passed down from mothers who carry the mutated gene.

Symptoms of Simpson-Golabi-Behmel Syndrome Type 1

SGBS1 can cause a wide range of physical and developmental abnormalities. Some of the most common symptoms include:

• Overgrowth of certain organs and tissues, such as the liver, spleen, tongue, and heart
• Distinct facial features, including a large head, widely spaced eyes, and a broad nose
• Developmental delays and intellectual disability
• Abnormalities of the skeletal system, such as extra fingers or toes and curvature of the spine
• Increased risk of certain cancers, particularly hepatoblastoma (a type of liver cancer)

Because SGBS1 is a rare condition, it can be difficult to diagnose. However, genetic testing can help to confirm a suspected diagnosis and identify carriers of the mutated GPC3 gene.

Diagnosing Simpson-Golabi-Behmel Syndrome Type 1

The gold standard for diagnosing SGBS1 is through genetic testing, which involves analyzing a sample of an individual's DNA for mutations in the GPC3 gene. This can be done using a variety of techniques, including Next-Generation Sequencing (NGS), which is a high-throughput method for sequencing large amounts of DNA quickly and accurately.

NGS-based genetic testing for SGBS1 is now available in India through DNA Labs India, a leading provider of genetic testing services. The cost of this test is INR 20,000, and it involves analyzing the entire coding region of the GPC3 gene to identify any mutations that may be causing the condition.

Why Choose DNA Labs India for SGBS1 Testing?

DNA Labs India is committed to providing accurate and reliable genetic testing services to help individuals and families better understand their health risks and make informed decisions about their care. Our team of experienced geneticists and technicians use state-of-the-art technology and techniques to deliver fast and accurate results, while ensuring the highest standards of quality and confidentiality.

If you or a loved one are experiencing symptoms of SGBS1 or have a family history of the condition, contact DNA Labs India today to learn more about our genetic testing services and how we can help you get the answers you need.

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 GPC3 Gene Simpson-Golabi-Behmel syndrome type 1 NGS Genetic DNA Test