Sotos syndrome 1 (SOTOS1; MIM 117550), Sotos syndrome 2 (SOTOS2; MIM 614753), Weaver syndrome (WVS; MIM 277590), and Simpson-Golabi-Behmel syndrome, type 1 (SGBS1; MIM 312870) are overgrowth syndromes characterized by pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delayread more

Tests Available

By gene: PIGA
Sanger Sequencing
Test Code: 2387
Deletion / Duplication
Test Code: 2388
NGS/Del Dup Comprehensive
Test Code: 2389

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
Neurological and Muscular Disorders
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 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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