Short Description

NGS genetic DNA test detecets for variant and mutation detection in SPRED1 gene for Neurofibromatosis type 1 -like syndrome

PreTest Information

Clinical History of Patient who is going for SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic DNA Test gene SPRED1

Detail Description

SPRED1 Gene Neurofibromatosis type 1-like syndrome NGS Genetic DNA Test

Neurofibromatosis type 1-like syndrome, also known as Legius syndrome, is a rare genetic disorder that affects the growth and development of various body parts. It is caused by mutations in the SPRED1 gene. The disorder is characterized by multiple café-au-lait spots on the skin, freckles in the groin and underarm areas, and benign tumors called neurofibromas.

Symptoms of Neurofibromatosis type 1-like syndrome

The symptoms of Neurofibromatosis type 1-like syndrome can vary from person to person. Some of the most common symptoms include:

• Café-au-lait spots
• Freckling in the groin and underarm areas
• Neurofibromas
• Macrocephaly (an abnormally large head)
• Scoliosis (curvature of the spine)
• Learning disabilities

Diagnosing Neurofibromatosis type 1-like syndrome

Diagnosing Neurofibromatosis type 1-like syndrome can be challenging as it is a rare disorder. A genetic test is required to confirm the diagnosis. The SPRED1 gene NGS Genetic DNA test is a highly accurate and reliable test that can detect mutations in the SPRED1 gene. The test involves analyzing the patient's DNA sample to identify any changes or mutations in the SPRED1 gene.

Cost of SPRED1 Gene NGS Genetic DNA Test

The cost of the SPRED1 Gene NGS Genetic DNA test in India is INR 20,000. The test is available at DNA Labs India, a leading diagnostic laboratory that specializes in genetic testing. The laboratory uses state-of-the-art technology and equipment to ensure accurate and reliable results.

Benefits of SPRED1 Gene NGS Genetic DNA Test

The SPRED1 Gene NGS Genetic DNA test offers several benefits, including:

• Accurate and reliable results
• Early detection of Neurofibromatosis type 1-like syndrome
• Personalized treatment options based on the patient's genetic profile
• Reduced risk of complications and associated health problems

Conclusion

Neurofibromatosis type 1-like syndrome is a rare genetic disorder that can have a significant impact on a person's health and quality of life. Early diagnosis and treatment are essential to manage the symptoms and prevent complications. The SPRED1 Gene NGS Genetic DNA test offered by DNA Labs India is a highly accurate and reliable test that can detect mutations in the SPRED1 gene. It is an essential tool for the early detection and management of Neurofibromatosis type 1-like syndrome.

Contact DNA Labs India today to schedule your SPRED1 Gene NGS Genetic DNA test and take control of your health.