The craniosynostosis syndromes are a group of disorders sharing the premature fusion of one or more sutures of the skull. Often additional anomalies are associated. There are eight craniosynostosis disorders caused by mutations in three fibroblast growth factor receptor genes: FGFR1, FGFR2 and FGFR3. All are autosomal dominant. Penetrance varies with the specific craniosynostosis type. Many FGFR mutations are associated with advanced paternal age.

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Tests Available

By gene: FGFR2
Sanger Sequencing
Option 1: FGFR2 Exons 8 & 10 only
Test Code: 1094
Sanger Sequencing
Option 2: Reflex to remaining FGFR2 exons
Test Code: 1095

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81404 x 1
Test Option: 
FGFR2 Exons 8 & 10 only
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: 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)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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