Short Description

NGS genetic DNA test detecets for variant and mutation detection in SERPINH1 gene for Osteogenesis imperfecta type 10

PreTest Information

Clinical History of Patient who is going for SERPINH1 Gene Osteogenesis imperfecta type 10 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SERPINH1 Gene Osteogenesis imperfecta type 10 NGS Genetic DNA Test gene SERPINH1

Detail Description

SERPINH1 Gene and Osteogenesis Imperfecta Type 10 NGS Genetic DNA Test Cost

Osteogenesis Imperfecta (OI) is a rare genetic disorder that affects the bones. It is also known as brittle bone disease. OI is caused by a mutation in the SERPINH1 gene, which is responsible for producing a protein called collagen. Collagen is an important component of bones, and a mutation in the SERPINH1 gene can cause the bones to be brittle and prone to fractures.

Symptoms of Osteogenesis Imperfecta

The symptoms of OI vary from person to person. Some people may have mild symptoms, while others may have severe symptoms. The most common symptoms of OI include:

• Frequent fractures
• Weak bones
• Short stature
• Loose joints
• Blue sclera
• Dental problems

Diagnosis of Osteogenesis Imperfecta

Diagnosis of OI is usually based on clinical examination, family history, and radiological findings. However, genetic testing can confirm the diagnosis and identify the specific mutation in the SERPINH1 gene.

NGS Genetic DNA Test Cost

DNA Labs India offers NGS Genetic DNA Test for OI at a cost of INR 20,000. This test uses Next-Generation Sequencing (NGS) technology to analyze the entire coding region of the SERPINH1 gene and identify any mutations that may be present.

NGS Genetic DNA Test for OI is a reliable and accurate method for diagnosing OI and identifying the specific mutation in the SERPINH1 gene. This test can help in the early diagnosis and management of OI.

Conclusion

Osteogenesis Imperfecta is a rare genetic disorder that affects the bones. A mutation in the SERPINH1 gene can cause OI. DNA Labs India offers NGS Genetic DNA Test for OI at a cost of INR 20,000. This test is a reliable and accurate method for diagnosing OI and identifying the specific mutation in the SERPINH1 gene. Early diagnosis and management of OI can help in improving the quality of life of the affected individual.

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 SERPINH1 Gene Osteogenesis imperfecta type 10 NGS Genetic DNA Test