Lateral meningocele syndrome (LMS; MIM 130720) is an autosomal dominant disorder with facial dysmorphism, skeletal anomalies, hypotonia, and multiple lateral meningoceles. LMS is characterized by lateral meningoceles that are typically most severe in the lower spine. Facial features include midface hypoplasia, downslanting palpebral fissures, hypertelorism, ptosis, low-set ears, malar hypoplasia, a high narrow palate, micrognatnia and cleft more

Tests Available

By gene: NOTCH3
Next Generation Sequencing
Test Code: 2096
Deletion / Duplication
Test Code: 2097
NGS/Del Dup Comprehensive
Test Code: 2098

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
CPT Codes: 
81479 x 1
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: 2 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: 2 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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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