Craniosynostosis, type 1 (CRS1)
Craniosynostosis, type 1 (CRS1; MIM 123100) is an autosomal dominant disorder caused by mutations in the TWIST1 gene. TWIST1 encodes a helix-loop-helix transcription factor (Twist-related protein 1) whose downstream targets include fibroblast growth factor receptors, RUNX2 and osteoblast marker genes. Craniosynostosis without additional findings is the defining feature of CRS1. Intelligence is reported to be normal and the skull is reported to have a beaten copper appearance. Penetrance is apparently not complete as some carriers of TWIST1 mutations have been reported to be unaffected. Mutations in the TWIST1 gene also cause Saethre-Chotzen syndrome (SCS; MIM 101400).
Explanation of pricing:
The First Gene price and CPT codes below are for the first gene tested by HDT Array on a particular specimen. The Additional Gene(s) price and CPT codes are for any subsequent gene(s) tested by HDT Array on the same specimen.