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, CIDECFBN1*,KCNJ6, LEMD2, LIPE, LMNA, LMNB2, OTULIN, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, SPRTN, ZMPSTE24
(21 genes, 37,2 kb)


Single gene diagnostics:

LMNA, PPARG

Contact

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de

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Lipodystrophy
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