SHORT STATURE: CLINICAL EXOME PANEL (Sec. & CNVs) – 198 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Short Stature Panel addresses monogenic etiologies affecting growth plates (COL2A1, COMP), GH–IGF1 pathways (GH1, GHR, IGF1, IGF1R, STAT5B), skeletal differentiation (FGFR3, SHOX, ROR2), cohesinopathies, and developmental syndromes. It is useful in cases of disproportionate/proportionate short stature, dysmorphisms, and bone abnormalities. Next-generation sequencing (NGS) with single-cell variants (SNVs), indels, and single-cell variants (CNVs) optimizes diagnosis and therapeutic management. Genes included: FGFR3, SHOX, GH1, GHR, IGF1, IGF1R, STAT5B, NPR2, ACAN, COL2A1, COMP, FLNB, PTPN11, RAF1, MAP2K1, NSD1, and others. For a complete list of the genes studied, please contact Genotica.
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