Number of Panel Genes: 
6

Simpson-Golabi-Behmel (SBGS), Sotos and Weaver (WVS) syndromes are overgrowth syndromes characterized by pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay.read more

Tests Available

6 Panel Genes: EZH2, GPC3, NSD1, NFIX, OFD1, PIGA
Next Generation Sequencing
$1,250
Test Code: 1984
Deletion / Duplication
$990
Test Code: 1985
NGS/Del Dup Comprehensive
$2,130
Test Code: 1986

Test Details

Technical Information
Panel Genes: 
EZH2, GPC3, NSD1, NFIX, OFD1, PIGA
Disease Groups: 
Skeletal Dysplasias
Neurological and Muscular Disorders
Craniosynostosis and Craniofacial Disorders
MIM: 
312870
117550
614753
277590
Billing
Price: 
$1,250
CPT Codes: 
81406 x 1
81479 x 5
Ordering
SKU:
1984
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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search