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 palate.read more

Tests Available

By gene: NOTCH3
Next Generation Sequencing
$990
Test Code: 2096
Deletion / Duplication
$990
Test Code: 2097
NGS/Del Dup Comprehensive
$1,365
Test Code: 2098
Sanger Sequencing
$350
Test Code: 2099
Exon 33

Test Details

Technical Information
Genes: 
NOTCH3
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
MIM: 
130720
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2096
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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