Short Description

NGS genetic DNA test detecets for variant and mutation detection in ULK2 gene for Smith-Magenis syndrome, ULK2 related

PreTest Information

Clinical History of Patient who is going for ULK2 Gene Smith-Magenis syndrome, ULK2 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ULK2 Gene Smith-Magenis syndrome, ULK2 related

Detail Description

Understanding ULK2 Gene and its Link to Smith-Magenis Syndrome

Smith-Magenis Syndrome (SMS) is a rare genetic disorder that affects around 1 in 25,000 individuals worldwide. This disorder is caused by the deletion or mutation of a specific gene called the ULK2 gene. This gene is located on chromosome 17 and plays a crucial role in the development of the nervous system.

Individuals with Smith-Magenis Syndrome experience a range of symptoms such as developmental delays, intellectual disability, sleep disturbances, behavioral problems, and distinctive facial features. In addition to these symptoms, individuals with SMS also display repetitive self-injurious behaviors such as biting, head banging, and skin picking.

Link between ULK2 Gene and Smith-Magenis Syndrome

As mentioned earlier, the ULK2 gene is responsible for the development of the nervous system. Research has shown that the deletion or mutation of this gene affects the normal functioning of the brain, leading to the symptoms seen in Smith-Magenis Syndrome.

The ULK2 gene is involved in the process of autophagy, which is the natural process of cell recycling. This process is essential for maintaining the health of cells in the body. When the ULK2 gene is not functioning correctly, it can lead to the accumulation of damaged proteins and organelles in the brain, leading to neurological problems seen in Smith-Magenis Syndrome.

Diagnosis of Smith-Magenis Syndrome

Smith-Magenis Syndrome is diagnosed through genetic testing, which involves analyzing the ULK2 gene for any deletions or mutations. Next-generation sequencing (NGS) is a highly advanced method of genetic testing that can analyze multiple genes in a single test.

The cost of ULK2 related NGS Genetic DNA Test in India is around INR 20,000. This test is highly accurate and can provide a definitive diagnosis for Smith-Magenis Syndrome.

Conclusion

Smith-Magenis Syndrome is a rare genetic disorder that is caused by the deletion or mutation of the ULK2 gene. This gene is responsible for the development of the nervous system, and its dysfunction leads to the symptoms seen in SMS. NGS Genetic DNA Test is a highly advanced method of genetic testing that can accurately diagnose Smith-Magenis Syndrome. If you suspect that you or your child may have Smith-Magenis Syndrome, it is essential to consult a genetic counselor or a healthcare professional for further evaluation.