The main specialty of LIEM-MGS is the diagnosis of Lysosomal Disorders (LDs), but the laboratory also frequently performs other tests for IEMs such as the diagnosis of classic galactosemia, type I tyrosinemia, biotinidase deficiency, congenital disorders of glycosylation, Smith-Lemli-Opitz Syndrome, among many other conditions. The gene discussed is BTD; the disease is classic galactosemia.