TYROBP Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Genetic Test

Test Details

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease, is a rare genetic disorder characterized by progressive neurodegeneration and bone abnormalities. The TYROBP gene is associated with PLOSL, and mutations in this gene can cause the disease.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to rapidly and accurately sequence large amounts of DNA. It allows for the simultaneous analysis of multiple genes or even the entire exome or genome.

NGS genetic testing can be used to identify mutations in the TYROBP gene or other genes associated with PLOSL, providing a molecular diagnosis for individuals suspected of having the disease. By identifying the specific genetic mutation causing PLOSL, NGS genetic testing can help confirm the diagnosis, provide information about disease prognosis, and guide treatment decisions. It can also be used for carrier testing and prenatal testing in families with a known TYROBP gene mutation.

Test Name

TYROBP Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Genetic Test

Components

Price: 4400.0 AED

Sample Condition

Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery

3 to 4 Weeks

Method

NGS Technology

Test Type

Neurological Disorders

Doctor

Neurologist

Test Department

Genetics

Pre Test 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.