An important test to confirm a diagnosis of<unk>  is evaluating the plasma for elevated levels of a substance known as sterols. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Sterol levels are measured by gas chromatography-mass spectrometry.
Conradi–Hünermann syndrome
Hermansky–Pudlak syndrome
Zimmermann–Laband syndrome
Wells-Jankovic syndrome
Keppen–Lubinsky syndrome
Hallermann–Streiff syndrome
Lujan–Fryns syndrome
Sakati–Nyhan–Tisdale syndrome