Number of Panel Genes: 
4

Weill-Marchesani syndrome (WMS) is characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including ectopia lentis, severe myopia, glaucoma, and microspherophakia.  Additionally, some patients have cardiac valvular abnormalities.  Weill-Marchesani syndrome 1 (WMS1; MIM 277600) is an autosomal recessive disorder caused by mutations in the ADAMTS10 gene.  Weill-Marchesaniread more

Tests Available

4 Panel Genes: ADAMTS10, FBN1, LTBP2, ADAMTS17
Next Generation Sequencing
$1,120
Test Code: 1730
Deletion / Duplication
$990
Test Code: 1731
NGS/Del Dup Comprehensive
$1,495
Test Code: 1732

Test Details

Technical Information
Panel Genes: 
ADAMTS10, FBN1, LTBP2, ADAMTS17
Disease Groups: 
Eye Disorders
Skeletal Dysplasias
MIM: 
277600
608328
614819
613195
Billing
Price: 
$1,120
CPT Codes: 
81408 x 1
81479 x 3
Ordering
SKU:
1730
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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