Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLEKHM1 gene for Osteopetrosis, autosomal recessive type 6

PreTest Information

Clinical History of Patient who is going for PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic DNA Test gene PLEKHM1

Detail Description

PLEKHM1 Gene Osteopetrosis, Autosomal Recessive Type 6 NGS Genetic DNA Test

Osteopetrosis is a rare genetic disorder characterized by the hardening and thickening of bones. It is caused by mutations in genes that regulate the function of osteoclasts, the cells that break down and resorb bone tissue. One of the genes involved in osteopetrosis is PLEKHM1, which is associated with autosomal recessive type 6 (ARO6) osteopetrosis. DNA Labs India offers a Next-Generation Sequencing (NGS) genetic DNA test for ARO6 osteopetrosis that can help diagnose this condition.

Symptoms of ARO6 Osteopetrosis

The symptoms of ARO6 osteopetrosis can vary widely depending on the severity of the disease. In general, people with ARO6 osteopetrosis experience bone abnormalities that can lead to fractures, dental problems, and vision and hearing impairments. Other symptoms may include:

• Delayed growth and development
• Recurrent infections
• Anemia
• Abnormalities in the nervous system
• Increased risk of developing certain cancers

Diagnosis of ARO6 Osteopetrosis

Diagnosis of ARO6 osteopetrosis can be difficult because its symptoms can be similar to those of other bone disorders. However, genetic testing can confirm the diagnosis. The NGS genetic DNA test offered by DNA Labs India analyzes the PLEKHM1 gene for mutations that are associated with ARO6 osteopetrosis. This test can help identify the specific genetic cause of the disease and can also be used for carrier testing in families with a history of ARO6 osteopetrosis.

Cost of ARO6 Osteopetrosis NGS Genetic DNA Test

The cost of the ARO6 osteopetrosis NGS genetic DNA test at DNA Labs India is INR 20,000. This test is performed using the latest technology and is analyzed by a team of experienced geneticists. The results of the test are provided in a clear and easy-to-understand report that includes information about the specific genetic mutations detected.

Conclusion

If you or a loved one is experiencing symptoms of ARO6 osteopetrosis, it is important to seek medical attention and consider genetic testing to confirm the diagnosis. The NGS genetic DNA test offered by DNA Labs India can help identify the genetic cause of the disease and provide valuable information for treatment and management of the condition. With a cost of INR 20,000, this test is an affordable and effective way to get answers about this rare genetic disorder.

Contact DNA Labs India today to learn more about the ARO6 osteopetrosis NGS genetic DNA test and to schedule an appointment for testing.

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 PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic DNA Test