Mowat-Wilson syndrome (MOWS; MIM  235730) is an autosomal dominant developmental disorder. Major clinical features include severe mental retardation, distinctive facial dimorphism, microcephaly, seizures and Hirschsprung disease (HSCR). Facial features include square-shaped face with deep-set, widely spaced eyes, broad nasal bridge with a rounded nasal tip and a prominent pointed cread more

Tests Available

By gene: ZEB2
Next Generation Sequencing
$990
Test Code: 2336
Deletion / Duplication
$990
Test Code: 2337
NGS/Del Dup Comprehensive
$1,365
Test Code: 2338

Test Details

Technical Information
Genes: 
ZEB2
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Billing
Price: 
$990
CPT Codes: 
81405 x 1
Ordering
SKU:
2336
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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