In clinical practice, next-generation sequencing (NGS) panels should include genes associated with congenital lipodystrophies, such as AGPAT2, AKT2, ADRA2 A, BSCL2, CAV1, CAVIN1, CIDEC, CTRC, LIPE, LMF1, LMNA, MFN2, PCYT1 A, PLIN1, POLD1, PPARG, and ZMPSTE24. Among these, pathogenic variants in LMNA, PPARG, AKT2, PLIN1, CAV1, MFN2, CIDEC, LIPE, POLD1, and ZMPSTE24 are also associated with known FPLD. The gene discussed is PCYT1A; the disease is lipodystrophy.