Short Description

NGS genetic DNA test detecets for variant and mutation detection in SPRED1 gene for Legius syndrome

PreTest Information

Clinical History of Patient who is going for SPRED1 Gene Legius syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPRED1 Gene Legius syndrome NGS Genetic DNA Test gene SPRED1

Detail Description

SPRED1 Gene Legius Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Legius Syndrome is a rare genetic disorder that affects the skin and nervous system. It is caused by mutations in the SPRED1 gene. This gene produces a protein that helps regulate cell growth and division. When mutations occur in this gene, it can lead to the development of Legius Syndrome.

Legius Syndrome is also known as Neurofibromatosis Type 1-like syndrome or SPRED1-related disorder. It is similar to Neurofibromatosis Type 1 (NF1), which is another genetic disorder that affects the skin and nervous system. However, Legius Syndrome is typically milder than NF1.

Symptoms of Legius Syndrome

The symptoms of Legius Syndrome can vary widely from person to person. Some individuals may have mild symptoms, while others may experience more severe symptoms. Some of the common symptoms of Legius Syndrome include:

• Café-au-lait spots (light brown patches on the skin)
• Freckling in the armpits and groin
• Multiple skin-fold freckles
• Learning difficulties
• Speech delays
• Behavioral problems
• Macrocephaly (enlarged head size)
• Lisch nodules (benign tumors on the iris of the eye)
• Neurofibromas (benign tumors on the nerves)

It is important to note that not all individuals with Legius Syndrome will have all of these symptoms. Some individuals may only have a few of these symptoms.

Diagnosis of Legius Syndrome

Legius Syndrome is diagnosed through genetic testing. A genetic test can identify mutations in the SPRED1 gene. This test is typically performed using Next Generation Sequencing (NGS) technology. NGS allows for the analysis of multiple genes simultaneously, making it a more efficient and cost-effective way to perform genetic testing.

The cost of an NGS-based genetic test for Legius Syndrome in India is typically around INR 20000. However, the cost can vary depending on the specific laboratory and testing method used.

Conclusion

Legius Syndrome is a rare genetic disorder that can cause a range of symptoms affecting the skin and nervous system. Genetic testing using NGS technology can be used to diagnose the condition. The cost of this test in India is typically around INR 20000. If you or a loved one are experiencing symptoms of Legius Syndrome, it is important to speak with a healthcare professional and consider genetic testing to receive a proper diagnosis and appropriate treatment.