Lipodystrophies are characterized by generalized or partial absence of adipose tissue and are typically considered in individuals with insulin resistance, significant dyslipidemia, and fatty liver. Lipodystrophies are usually classified according to the anatomical distribution of fat tissue: 

  • Congenital generalized lipodystrophy is often apparent at birth and is characterized by a 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 dyslipidemia, hepatomegaly and non-alcoholic steatohepatitis are almost always noted. 
  • Partial lipodystrophy is characterized by abnormal fat topography along with an overall reduction in fat mass affecting the limbs with variable truncal involvement and normal or excess fat on the face and neck. Partial lipodystrophy may not be prominent until puberty and is typically milder than congenital generalized lipodystrophy. Women are may be more severely affected than men. Asymptomatic impaired glucose tolerance to severe insulin resistance can be noted, and non-alcoholic steatohepatitis and cardiovascular disease are common complications.  

The Lipodystrophy panel includes sequence and deletion/duplication analysis of the listed genes which are associated with congenital generalized lipodystrophy and partial lipodystrophy.

Institutional Price 
$2,500.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
2123
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene in the Lipodystrophy Panel can also be ordered individually. Please contact us directly for cost and CPT code information.