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Disease Name: Nestor-Guillermo progeria syndrome
Genes Covered:ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24
Panel: Strand Dermatological Disorders Test
Disorder Category: Disorders of collagen, elastin and dermal matrix
Turnaround Time: 5-6 weeks from receipt of sample in the lab