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Disease Name: Tall stature, scoliosis & macrodactyly of great toes
Genes Covered:DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, SKI, SMAD3, SOST, TGFB2, TGFB3, TGFBR1, TGFBR2
Panel: Strand Skeletal Disorders Test
Disorder Category: Overgrowth syndromes with skeletal involvement
Turnaround Time: 5-6 weeks from receipt of sample in the lab