- Lipodystrophies are characterized by generalized or partial absence of adipose tissue and are typically considered in individuals with insulin resistance, significant dyslipidaemia and fatty liver. Lypodystrophies can be divided into generalized, partial or local, and into inherited or acquired forms (1). Inherited lipodystrophy is a group of related illnesses with the two main subgroups as congenital generalized lipodystrophy and familial partial lipodystrophy (2). Congenital generalized lipodystrophy, which is typically apparent from birth, is characterized by generalized loss of adipose tissue affecting the limbs, trunk, face and neck. In addition, Severe dyslipidaemia, hepatomegaly and non-alcoholic steatohepatitis are often observed. Partial lipodystrophy, which may not be prominent until puberty and is typically milder, is characterized by abnormal fat topography along with an overall reduction in fat mass affecting the limb with variable truncal involvement and normal or excess fat on the face and neck. Women are typically more severely affected than men. Depending on the gene-specific mutation, lipodystrophies can follow either an autosomal recessive or autosomal dominant inheritance pattern (3).
- Genes (20): AGPAT2, AKT2, ALB, ATP6V0A2, BMPR2, BSCL2, CAV1, CIDEC, FBN1, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, TBC1D4, and ZMPSTE24
Test Code: 4031
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Lipodystrophy Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81406×3, 81408×1, 81479×16
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Diabetes and Obesity Panel