Short Description

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

PreTest Information

Clinical History of Patient who is going for TYROBP 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 TYROBP Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Detail Description

TYROBP 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 TYROBP gene. TYROBP gene provides instructions for making a protein that is involved in the immune system and communication between cells.

People with PLOSL have symptoms that include dementia, difficulty walking, and bone abnormalities. The disease typically begins in adulthood, but can also occur in childhood.

Diagnosis

Diagnosis of PLOSL can be difficult because the symptoms are similar to other neurological disorders. However, genetic testing can confirm the diagnosis. The TYROBP gene NGS Genetic DNA Test is a reliable and accurate way to diagnose PLOSL.

The NGS Genetic DNA Test is a type of genetic testing that analyzes multiple genes simultaneously. It is a comprehensive test that looks for mutations in the TYROBP gene and other genes associated with neurological disorders.

Symptoms

The symptoms of PLOSL can vary from person to person, but typically include:

• Dementia
• Difficulty walking
• Changes in behavior and personality
• Loss of coordination and balance
• Bone abnormalities

Cost

The cost of the TYROBP gene NGS Genetic DNA Test is INR 20,000. This includes the cost of the test, genetic counseling, and interpretation of the results.

Conclusion

If you or someone you know is experiencing symptoms of PLOSL, it is important to get a diagnosis as soon as possible. The TYROBP gene NGS Genetic DNA Test is a reliable and accurate way to diagnose the disease. Contact DNA Labs India for more information about the test and to schedule an appointment.

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