A definitive diagnosis of<unk>  syndrome is made by measuring I2S activity in serum, white blood cells, or fibroblasts from skin biopsy. In some people with<unk>  syndrome, analysis of the I2S gene can determine clinical severity. Prenatal diagnosis is routinely available by measuring I2S enzymatic activity in amniotic fluid or in chorionic villus tissue.
Hunter syndrome laboratory findings
Noonan syndrome laboratory findings
Tuberous sclerosis laboratory findings
Progeria laboratory findings
Hurler syndrome laboratory findings
Neurofibromatosis type 1 laboratory findings
Cowden syndrome laboratory findings
Hunter syndrome physical examination