Laboratory of Molecular Pathology offers modern and widely applicable genetic services for diagnosis and prophylactics of inherited metabolic diseases (IMD). The highly effective methods performed in Laboratory of Molecular Pathology allow opportunities for reliable specialized genetic analyses for other Balkan countries, which need genetic service. The Laboratory of Molecular Pathology provides services for 1 specialised clinic, 5 medico-genetic counselling and more than 70 paediatric and 119 neonatal units in Bulgaria. The laboratory performs: 1) Mass neonatal screening for PKU (up to now 1 700 000 newborns were screened, 86 patients with classical PKU were detected); 2) Selective screening program for over 70 inborn disorders of metabolism - during the period of 25 years, 8592 patients at high risk were included in the selective screening program. In total 611 patients (7.1%) were diagnosed in the basic groups of inherited metabolic diseases: Aminoacid disorders - 44; Urea cycle defects-13; Organic acidurias -53; Fatty acid oxadition disorders - 12; Peroxisomal disorders -9; Disorders of the renal transport - 61; Lactic acidurias - 5; Carbohydrate disorders-131; Glycoprotein degradation - 7; Mucopolysaccharidoses - 54; Ganglioside disorders -150; 3) Prenatal metabolic and enzymatic diagnosis (up to now 43 prenatal diagnoses for different metabolic disorders were performed). Our results can be assessed as a reasonably good and completely comparable to the data of the leading European genetic centres.