Sotos syndrome 1 (SOTOS1; MIM 117550) is an autosomal dominant overgrowth disorder caused by mutations is the NSD1 gene. In addition to overgrowth, accelerated osseous maturation, typical facial features, macrocephaly, and developmental delay are common clinical features. Other characteristic features include congenital heart defects, high arched palate, hypodontia, joint laxity, and pes planus.  read more

Tests Available

By gene: NSD1
Next Generation Sequencing
Test Code: 1975
Deletion / Duplication
Test Code: 1976
NGS/Del Dup Comprehensive
Test Code: 1977

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Test Details

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