Short Description

NGS genetic DNA test detecets for variant and mutation detection in FKBP10 gene for Osteogenesis imperfecta type 11

PreTest Information

Clinical History of Patient who is going for FKBP10 Gene Osteogenesis imperfecta type 11 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FKBP10 Gene Osteogenesis imperfecta type 11 NGS Genetic DNA Test gene FKBP10

Detail Description

FKBP10 Gene and Osteogenesis Imperfecta Type 11: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

When it comes to genetic disorders, osteogenesis imperfecta (OI) is one of the most well-known and researched conditions. Commonly known as brittle bone disease, OI is a genetic disorder that affects the body's ability to produce collagen, the main protein in bones, skin, and other connective tissues.

There are different types of OI, and each type is caused by a specific genetic mutation. One of the rarest types of OI is type 11, which is caused by mutations in the FKBP10 gene. In this blog post, we will discuss the FKBP10 gene, OI type 11 symptoms, diagnosis, and NGS genetic DNA test cost in India.

What is the FKBP10 Gene?

The FKBP10 gene provides instructions for making a protein called FKBP65. This protein plays a crucial role in the formation of collagen molecules, which are necessary for bone strength and structure. Mutations in the FKBP10 gene can lead to reduced collagen production, resulting in weak bones and other connective tissues.

Osteogenesis Imperfecta Type 11 Symptoms

OI type 11 is a rare type of OI, and its symptoms can vary widely in severity. Some common symptoms of OI type 11 include:

• Frequent fractures, even from minor injuries
• Brittle bones that break easily
• Short stature
• Weak muscles
• Bowed legs or arms
• Joint laxity or hypermobility

It is important to note that not all people with OI type 11 will exhibit all of these symptoms, and some may only have mild symptoms.

Diagnosis of OI Type 11

Diagnosing OI type 11 involves a combination of medical history, physical examination, and genetic testing. A doctor will likely ask about the patient's symptoms, family history, and any previous fractures. They may also perform a physical exam to look for signs of bone weakness or deformity.

Genetic testing is the most definitive way to diagnose OI type 11. This may involve a blood test or a saliva test to look for mutations in the FKBP10 gene.

NGS Genetic DNA Test Cost for OI Type 11 in India

Next-generation sequencing (NGS) is a powerful tool used in genetic testing to identify mutations in multiple genes simultaneously. NGS genetic DNA testing for OI type 11 can be done through various labs in India.

The cost of NGS genetic DNA testing for OI type 11 in India can vary depending on the lab and the specific test ordered. On average, the cost of NGS genetic DNA testing for OI type 11 in India can range from INR 15,000 to INR 25,000. However, some labs may offer discounts or packages for multiple genetic tests.

Conclusion

Understanding the FKBP10 gene and OI type 11 can help individuals and families affected by this rare genetic disorder. With advances in genetic testing, it is now possible to diagnose OI type 11 definitively and provide appropriate medical care. If you suspect that you or a loved one may have OI type 11, speak to a doctor or genetic counselor to discuss genetic testing options and treatment options.

At DNA Labs India, we provide reliable and accurate NGS genetic DNA testing for OI type 11 and other genetic disorders. Our team of experts can help you understand your test results and provide guidance on appropriate medical care. 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 FKBP10 Gene Osteogenesis imperfecta type 11 NGS Genetic DNA Test