Short Description

NGS genetic DNA test detecets for variant and mutation detection in SERPINF1 gene for Osteogenesis imperfecta type 6

PreTest Information

Clinical History of Patient who is going for SERPINF1 Gene Osteogenesis imperfecta type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SERPINF1 Gene Osteogenesis imperfecta type 6 NGS Genetic DNA Test gene SERPINF1

Detail Description

SERPINF1 Gene and Osteogenesis Imperfecta Type 6: NGS Genetic DNA Test Cost INR 20,000

Osteogenesis Imperfecta is a rare genetic disorder that affects the bones and leads to brittle bones that are prone to fractures. There are several types of Osteogenesis Imperfecta, and each is caused by a different genetic mutation. One such type is Osteogenesis Imperfecta Type 6, which is caused by a mutation in the SERPINF1 gene.

What is the SERPINF1 gene?

The SERPINF1 gene provides instructions for making a protein called pigment epithelium-derived factor (PEDF). PEDF is involved in the formation and maintenance of bones. It plays a role in regulating the activity of cells called osteoblasts, which are responsible for building bone tissue. Mutations in the SERPINF1 gene can cause Osteogenesis Imperfecta Type 6.

Symptoms of Osteogenesis Imperfecta Type 6

The symptoms of Osteogenesis Imperfecta Type 6 are similar to those of other types of Osteogenesis Imperfecta. They include:

• Frequent bone fractures, often with little or no trauma
• Short stature
• Bowing of the long bones
• Scoliosis
• Blue or gray tint to the whites of the eyes

Diagnosis of Osteogenesis Imperfecta Type 6

Osteogenesis Imperfecta Type 6 is diagnosed through a combination of clinical evaluation and genetic testing. A doctor will evaluate the patient's symptoms and medical history, perform a physical exam, and order imaging tests such as X-rays or bone scans to look for signs of bone fragility. Genetic testing can confirm the diagnosis by identifying the specific mutation in the SERPINF1 gene.

NGS Genetic DNA Test for Osteogenesis Imperfecta Type 6

NGS (Next-Generation Sequencing) Genetic DNA Testing is a highly accurate and comprehensive method for identifying genetic mutations that cause Osteogenesis Imperfecta Type 6. The test analyzes the patient's DNA and looks for mutations in the SERPINF1 gene. The results of the test can confirm the diagnosis and provide valuable information about the patient's condition and potential treatment options.

Cost of NGS Genetic DNA Test for Osteogenesis Imperfecta Type 6 in India

The cost of NGS Genetic DNA Test for Osteogenesis Imperfecta Type 6 in India is approximately INR 20,000. The test is available at DNA Labs India, a leading provider of genetic testing services in the country. The cost of the test may vary depending on the specific testing method used and other factors.

Conclusion

Osteogenesis Imperfecta Type 6 is a rare genetic disorder that can cause brittle bones and frequent fractures. It is caused by a mutation in the SERPINF1 gene, which can be identified through NGS Genetic DNA Testing. The cost of this test in India is approximately INR 20,000. If you suspect that you or a loved one may have Osteogenesis Imperfecta Type 6, it is important to seek medical attention and consider genetic testing to confirm the diagnosis and explore potential treatment options.

For more information about NGS Genetic DNA Testing for Osteogenesis Imperfecta Type 6, contact DNA Labs India today.

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 SERPINF1 Gene Osteogenesis imperfecta type 6 NGS Genetic DNA Test