Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLOD2 gene for Osteogenesis imperfecta with congenital joint contractures

PreTest Information

Clinical History of Patient who is going for PLOD2 Gene Osteogenesis imperfecta with congenital joint contractures NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PLOD2 Gene Osteogenesis imperfecta with congenital joint contractures NGS Genetic DNA Test gene PLOD2

Detail Description

PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Osteogenesis Imperfecta (OI), commonly known as brittle bone disease, is a genetic disorder that affects the bones and connective tissues. It is a rare disease that affects approximately 6-7 people per 100,000 worldwide. OI is caused by mutations in genes that affect the production of collagen, a protein that provides strength and structure to bones and other connective tissues in the body.

One of the genes associated with OI is the PLOD2 gene. Mutations in this gene can cause OI with congenital joint contractures. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures.

Symptoms

The symptoms of PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures can vary from person to person. Some common symptoms include:

• Frequent bone fractures
• Blue sclera (the white part of the eyes appears blue)
• Short stature
• Bone deformities
• Loose joints
• Weak muscles
• Respiratory problems
• Easy bruising
• Hearing loss

If you or your child is experiencing any of these symptoms, it is important to consult a doctor or genetic counselor.

Diagnosis

The diagnosis of PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures is made through a combination of clinical evaluation, imaging studies, and genetic testing. Your doctor will perform a physical examination, review your medical history, and order imaging studies such as X-rays, CT scans, or MRI scans to evaluate bone and joint health.

Genetic testing is the most definitive way to diagnose PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures. NGS genetic DNA testing can identify mutations in the PLOD2 gene that may be causing the disease. This type of testing is a non-invasive, simple, and painless procedure that involves taking a blood sample or a cheek swab.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures in India is approximately INR 20,000. This cost may vary depending on the laboratory and the location where the test is performed.

NGS genetic DNA testing is a valuable tool in the diagnosis of PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures. It can provide a definitive diagnosis, help guide treatment decisions, and provide important information for family planning.

Conclusion

PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures is a rare genetic disorder that can cause significant health problems. If you or your child is experiencing symptoms of the disease, it is important to consult a doctor or genetic counselor for an accurate diagnosis and appropriate treatment. NGS genetic DNA testing can provide a definitive diagnosis and guide treatment decisions. The cost of NGS genetic DNA testing for PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures in India is approximately INR 20,000.

At DNA Labs India, we offer NGS genetic DNA testing for PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures. Our state-of-the-art laboratory is equipped with the latest technology and staffed by experienced professionals who are dedicated to providing accurate and reliable genetic testing services. Contact us today to learn more about our services.

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 PLOD2 Gene Osteogenesis imperfecta with congenital joint contractures NGS Genetic DNA Test