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Download Connective Tissue Disorders gene list
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Transcript
Postnatal Testing GENE LIST (expanded panel, version 3_50) This 50 gene panel is applied to all testing performed on and after April 1, 2016. ^ Indicates genes added to the previous panel. Panel: Connective Tissue Disorders (Marfan, Loeys-Dietz, Thoracic Aortic Aneurysmal Dissections [TAAD], EhlersDanlos [EDS], Stickler, Cutis Laxa, Marfan-like and related disorders) ABCC6 ACTA2 ADAMTS2 ^ ADAMTS10 ^ ADAMTSL2 ^ ALDH18A1 ^ ATP6V0A2 ^ ATP7A CBS CHST14 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COL11A1 COL11A2 EFEMP2 (FBLN4) ^ ELN FBLN5 ^ FBN1 FBN2 FKBP14 FLNA LTBP4 ^ MED12 ^ MYH11 MYLK NOTCH1 ^ PKD2 ^ PLOD1 PRDM5 ^ PRKG1 ^ PYCR1 ^ SKI SLC2A10 SLC39A13 SMAD2 ^ SMAD3 SMAD4 TGFB2 TGFB3 ^ TGFBR1 TGFBR2 TNXB ZNF469 ^ UNMC Human Genetics Laboratory where excellence is dominant | 402-559-5070 | www.unmc.edu/geneticslab
