Short Description

NGS genetic DNA test detecets for variant and mutation detection in TREM2 gene for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

PreTest Information

Clinical History of Patient who is going for TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Detail Description

TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic DNA Test

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a rare genetic disorder that affects the brain and bones. It is caused by mutations in the TREM2 gene, which produces a protein that is important for the normal function of immune cells in the brain.

The symptoms of PLOSL can vary widely, but typically include dementia, difficulty with movement and coordination, bone fractures, and other skeletal abnormalities. Diagnosis of PLOSL can be difficult, as it is a rare disorder and many of the symptoms are also seen in other conditions.

NGS Genetic DNA testing is a powerful tool for diagnosing PLOSL, as it can detect mutations in the TREM2 gene with high accuracy. This test is performed using a small blood or saliva sample, and can provide results within a few weeks.

Cost of TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic DNA Test

The cost of the TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the specific laboratory and testing methods used.

Symptoms of TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

The symptoms of PLOSL can vary widely, but typically include:

• Dementia
• Difficulty with movement and coordination
• Bone fractures
• Skeletal abnormalities
• Loss of vision
• Hearing loss

These symptoms usually develop gradually over several years, and can be difficult to diagnose in the early stages.

Diagnosis of TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Diagnosis of PLOSL can be difficult, as it is a rare disorder and many of the symptoms are also seen in other conditions. However, NGS Genetic DNA testing can be a powerful tool for diagnosing PLOSL.

This test is performed using a small blood or saliva sample, and can detect mutations in the TREM2 gene with high accuracy. If a mutation is detected, additional tests may be needed to confirm the diagnosis and determine the severity of the condition.

Conclusion

PLOSL is a rare genetic disorder that affects the brain and bones. The TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic DNA Test is a powerful tool for diagnosing this condition, and can provide accurate results within a few weeks.

If you or a loved one are experiencing symptoms of PLOSL, it is important to seek medical attention and discuss the possibility of genetic testing with your healthcare provider.

With early diagnosis and appropriate treatment, it is possible to manage the symptoms of PLOSL and improve quality of life for those affected by this condition.

At DNA Labs India, we offer a wide range of genetic testing services, including the TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic DNA Test. Contact us today to learn more about our testing options and how we can help you.

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 TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic DNA Test