Short Description

NGS genetic DNA test detecets for variant and mutation detection in OSTM1 gene for Osteopetrosis, autosomal recessive type 5

PreTest Information

Clinical History of Patient who is going for OSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with OSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic DNA Test gene OSTM1

Detail Description

OSTM1 Gene Osteopetrosis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Osteopetrosis, also known as marble bone disease, is a rare genetic disorder that affects the bones. It is caused by mutations in genes that are responsible for bone remodeling, leading to an abnormal increase in bone density. One of the genes associated with osteopetrosis is the OSTM1 gene, which is responsible for the autosomal recessive type 5 form of the disease. In this blog, we will discuss the symptoms and diagnosis of OSTM1 gene osteopetrosis, as well as the cost of NGS genetic DNA testing for this condition in India.

Symptoms of OSTM1 Gene Osteopetrosis

The symptoms of OSTM1 gene osteopetrosis can vary widely depending on the severity of the condition. In some cases, the disease may be diagnosed in infancy or childhood due to abnormal bone development. In other cases, symptoms may not appear until adulthood.

Common symptoms of OSTM1 gene osteopetrosis include:

• Fractures
• Abnormal bone growth and density
• Dental problems
• Hearing loss
• Vision problems
• Anemia

Some people with OSTM1 gene osteopetrosis may also experience neurological symptoms, such as seizures or developmental delays.

Diagnosis of OSTM1 Gene Osteopetrosis

Diagnosing OSTM1 gene osteopetrosis can be challenging due to the rarity of the condition and the wide range of symptoms that may be present. A diagnosis is typically made based on a combination of clinical examination, imaging tests, and genetic testing.

Imaging tests such as X-rays or CT scans can reveal the characteristic bone abnormalities associated with osteopetrosis. Genetic testing can confirm a diagnosis by identifying mutations in the OSTM1 gene.

NGS Genetic DNA Test Cost for OSTM1 Gene Osteopetrosis in India

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for diagnosing genetic disorders such as OSTM1 gene osteopetrosis. This type of testing can identify mutations in multiple genes simultaneously, making it a more efficient and cost-effective diagnostic method than traditional Sanger sequencing.

The cost of NGS genetic DNA testing for OSTM1 gene osteopetrosis in India typically ranges from INR 15,000 to INR 20,000, depending on the specific testing laboratory and the level of testing required.

Conclusion

OSTM1 gene osteopetrosis is a rare genetic disorder that can cause a wide range of symptoms related to bone and neurological health. Diagnosing the condition can be challenging, but NGS genetic DNA testing is a powerful tool for identifying mutations in the OSTM1 gene. If you or a loved one is experiencing symptoms of osteopetrosis, it is important to consult with a healthcare professional and consider genetic testing to confirm a diagnosis.

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 OSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic DNA Test