The diagnosis of SLOS is typically based on clinical features and confirmed by biochemical and genetic testing. Key diagnostic steps include:
Measuring elevated levels of 7-dehydrocholesterol (7-DHC) in the blood or tissues Genetic testing to identify mutations in the DHCR7 gene Prenatal diagnosis can be performed through amniocentesis or chorionic villus sampling to measure 7-DHC levels or by molecular genetic testing
