Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIK3R1 gene for SHORT syndrome

PreTest Information

Clinical History of Patient who is going for PIK3R1 Gene SHORT syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIK3R1 Gene SHORT syndrome NGS Genetic DNA Test gene PIK3R1

Detail Description

PIK3R1 Gene SHORT Syndrome NGS Genetic DNA Test Cost

SHORT syndrome is a rare genetic disorder that affects growth and development. It is caused by mutations in the PIK3R1 gene, which provides instructions for making a protein that is involved in cell growth and division. This protein is part of a signaling pathway that regulates cell growth and survival.

SHORT stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay. People with SHORT syndrome may have a small stature, loose joints, dental problems, and eye abnormalities.

NGS (Next Generation Sequencing) genetic DNA testing is a powerful tool for identifying mutations in the PIK3R1 gene. This test analyzes the entire gene sequence to detect any changes that may be causing SHORT syndrome. NGS testing can provide accurate results in a timely manner, allowing doctors to make informed decisions about treatment and management.

Symptoms of SHORT Syndrome

• Short stature
• Hyperextensibility of joints
• Ocular depression
• Rieger anomaly
• Teething delay
• Dental problems
• Eye abnormalities

Diagnosis of SHORT Syndrome

Diagnosis of SHORT syndrome is based on clinical features and genetic testing. Doctors may perform a physical exam to look for characteristic symptoms, such as short stature and joint hypermobility. They may also order imaging tests, such as X-rays, to evaluate bone growth and development.

Genetic testing, such as NGS, can confirm a diagnosis of SHORT syndrome by detecting mutations in the PIK3R1 gene. This testing can also identify carriers of the gene mutation, which can be helpful for family planning purposes.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for SHORT syndrome at DNA Labs India is INR 20,000. This includes the cost of sample collection, processing, and analysis. We offer accurate results at affordable prices, and our testing is performed in a state-of-the-art laboratory using the latest technology.

If you suspect that you or a loved one may have SHORT syndrome, it is important to seek medical attention. Genetic testing can provide valuable information about diagnosis, treatment, and management of this rare genetic disorder.

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 PIK3R1 Gene SHORT syndrome NGS Genetic DNA Test