Neurofibromatosis type 1 is a condition caused by amutation in NF1 gene. The disease is characterized by achange in skin pigmentation (color) and growth of tumor in along nerves in skin, brain & other vital organs. The chances of developing cancer are elevated in this condition.

Medical Condition

• Flat patches on the skin
• Freckles (underarms & groin)
• Loss of vision
• Learning disabilities & Attention deficit hyperactivity disorder (ADHD)
• Noncancerous benign tumors (spinal cord, nerves)
• Development of Cancerous tumors (Brain & Blood cancers)

Genetic Changes

• NF1 gene provides instructional code for the production of neurofibromin
• Neurofibromin is a tumor suppressor which controls cell growth and division
• NF1 gene mutation disrupts the production of Neurofibromin which ultimately leads to the development of non-cancerous tumors and subsequently cancerous tumors in the body.

Treatment

No specific treatment as it is a genetic disorder with high morbidity.

• Bone Marrow transplantation
• Blood transfusion
• Enzyme replacement therapy
• Gene therapy

Solution

• Genetic screening can identify single gene disorders
• Early prognosis can prevent such diseases
• Remedial & personalized medicine can change the outcome
• Doctors can suggest alternatives for couples planning pregnancy

More information

At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.