Lipodystrophy
*= For these genes, an MLPA analysis may be carried out as an additional diagnostic step.
Small panel (#151): Familial partial lipodystrophy 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)
Large panel (#454): Familial partial lipodystrophy according to NIH Genetics Home Reference
AGPAT2, AKT2, BANF1, BSCL2, CAV1, CAVIN1, CIDEC, FBN1*,KCNJ6, LEMD2, LIPE, LMNA, LMNB2, OTULIN, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, SPRTN, ZMPSTE24
(21 genes, 37,2 kb)
Single gene diagnostics:
LMNA, PPARG