Number of Panel Genes: 

Sotos syndrome is characterized by overgrowth, accelerated osseous maturation, typical facial features, macrocephaly, and developmental delay. Other clinical findings may include congenital heart anomalies, scoliosis, and seizures. Sotos syndrome has been shown to be caused by mutations in three different genes: APC2, NFIX and NSD1. Weaver syndrome is similar to Sotos more

Tests Available

4 Panel Genes: APC2, EZH2, NFIX, NSD1
Next Generation Sequencing
Test Code: 5424
Deletion / Duplication
Test Code: 5425
NGS/Del Dup Comprehensive
Test Code: 5426

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Skeletal Dysplasias
Neurological and Muscular Disorders
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81406 x 1
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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