Weill-Marchesani syndrome, autosomal recessive (WMS; MIM 277600) is characterized by short stature, joint stiffness, brachydactyly, and several eye abnormalities including ectopia lentis, severe myopia, glaucoma and microspherophakia. Autosomal recessive WMS is caused by homozygous or compound heterozygous mutations in the ADAMTS10 gene which codes for a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10. Weill-Marchesani syndrome, autosomal dominant (WMS; MIM 608328) is phenotypically similar to the recessive form. The autosomal dominant form is caused by mutations in the FBN1 gene, which codes for fibrillin 1.
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.