Saethre-Chotzen syndrome (SCS; MIM 101400) is an autosomal dominant disorder. SCS is mainly caused by loss of function mutations in the TWIST1 gene, or a specific gain-of-function mutation in the FGFR3 gene. TWIST1 encodes a helix-loop-helix transcription factor (Twist-related protein 1) whose downstream targets include fibroblast growth factor receptors, RUNX2 and osteoblast marker more

Tests Available

Panel Genes: TWIST1, FGFR3
Sanger Sequencing
Test Code: 1101
TWIST1 & FGFR3 Exon 7 only
Deletion / Duplication
Test Code: 1102
TWIST1 only
NGS/Del Dup Comprehensive
Test Code: 5345

Test Details

Technical Information
Panel Genes: 
Test Note: 
TWIST1 & FGFR3 Exon 7 only
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81479 x 1
81404 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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