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Lipodystrophy
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Lipodystrophy

For any questions regarding clinical issues, please get in contact with Prof. Dr. C. Netzer, MD (+49-221-478-89586, [Email protection active, please enable JavaScript.]). The panel diagnostics request form (German) for lipodystrophy is available here.

 

Familial lipodystrophic syndromes

standard panel (#151): Familial partial lipodystrophy / FPLD according to NIH Genetics Home Reference

AGPAT2, AKT2, BANF1, BSCL2, CAV1, CAVIN1, CIDEC, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, SPRTN, ZMPSTE24 (17 genes, 24,7 Kb)

complete panel (#150): Familial partial lipodystrophy / FPLD according to NIH Genetics Home Reference
AGPAT2, AKT2, BANF1, BSCL2, CAV1, CAVIN1, CIDEC, KCNJ6, LIPE, LMNA, LMNB2, OTULIN, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, SPRTN, ZMPSTE24 (19 genes, 27,0 Kb)

 

single gene diagnostics:
LMNA, PPARG