Short Description

NGS genetic DNA test detecets for variant and mutation detection in VPS13B gene for Cohen syndrome

PreTest Information

Clinical History of Patient who is going for VPS13B Gene Cohen syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VPS13B Gene Cohen syndrome

Detail Description

VPS13B Gene Cohen Syndrome NGS Genetic DNA Test Cost INR:20,000 Symptoms Diagnosis

VPS13B Gene Cohen Syndrome, also known as Cohen Syndrome, is a rare genetic disorder that affects many parts of the body. It is caused by a mutation in the VPS13B gene, which provides instructions for making a protein that is important for the normal development and function of certain cells and tissues.

Symptoms of VPS13B Gene Cohen Syndrome

The symptoms of VPS13B Gene Cohen Syndrome can vary widely from person to person. Some of the common symptoms include:

• Developmental delay and intellectual disability
• Distinctive facial features, including a small head size, widely spaced eyes, and a prominent nose
• Vision problems, such as nearsightedness and cataracts
• Joint problems, including hypermobility and contractures
• Low muscle tone and difficulty with movement and coordination
• Obesity and a tendency to gain weight easily
• Speech and language delays
• Behavioral problems, including anxiety and obsessive-compulsive disorder

Diagnosis of VPS13B Gene Cohen Syndrome

Diagnosing VPS13B Gene Cohen Syndrome can be challenging, as the symptoms can be similar to those of other disorders. A diagnosis is typically made based on a combination of clinical examination, genetic testing, and other diagnostic tests.

NGS Genetic DNA Test Cost at DNA Labs India

DNA Labs India offers NGS Genetic DNA Testing for VPS13B Gene Cohen Syndrome at a cost of INR:20,000. This test uses Next-Generation Sequencing (NGS) technology to analyze the DNA sequence of the VPS13B gene and identify any mutations that may be present. This test can provide a definitive diagnosis of VPS13B Gene Cohen Syndrome, which can help guide treatment and management options.

Conclusion

VPS13B Gene Cohen Syndrome is a rare genetic disorder that can cause a wide range of symptoms. If you or a loved one are experiencing any of the symptoms associated with this disorder, it is important to seek medical attention and consider genetic testing. At DNA Labs India, we offer NGS Genetic DNA Testing for VPS13B Gene Cohen Syndrome at an affordable cost of INR:20,000. 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 VPS13B Gene Cohen syndrome NGS Genetic DNA Test