Congenital generalized lipodystrophy, which is typically apparent from birth, is characterized by generalized loss of adipose tissue affecting the limbs, trunk, face and neck. Advanced bone age and linear growth and skeletal muscle prominence can be seen during childhood. Severe dyslipidaemia, hepatomegaly and non-alcoholic steatohepatitis are almost always noted.
Any gene in the Congenital Generalized Lipodystrophy panel can also be ordered individually. Please contact us directly for cost and CPT code information.