Smith-Lemli-Opitz syndrome is caused by amutation in the DHCR7 gene. This disease affects the production of cholesterol in the body. Growth and development of individuals are stunted with severe medical complications.
No specific treatment as it is a genetic disorder with high morbidity. Bone Marrow transplantation
At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.