Weill-Marchesani syndrome (WMS), autosomal recessive Print

Back to All Tests
Order Test
Gene
ADAMTS10
MIM
277600
Clinical Description

Weill-Marchesani syndrome

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.

Available Tests
The following test(s) are available for Weill-Marchesani syndrome (WMS), autosomal recessive
DNA Sequencing
Price: $1810
CPT Codes: 83890 83898 83894 83904 83912
  1 28 28 32 1
Deletion / Duplication Analysis - High-Density Targeted Array

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.

First Gene:
Price: $1,190
CPT Codes: 83890 83892 83894 88386 83912
  1 2 1 4 1
Additional Gene(s):
Price: $590
CPT Codes: 83890 83892 83894 88386 83912
  NA NA NA 4 1
Back to All Tests
Order Test

Suggest a Test

Our list of diagnostics continues to expand to meet your needs. Please let us know if you require an additional test by completing our online Suggest a Test form.

Feedback

Comment on our website, let us know how we did on your last test or complete a brief survey. Submit your feedback now.