FGFR2 related craniosynostosis - 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 sixcraniosynostosis disorders caused by mutations in the fibroblast growth factor receptor 2 gene (FGFR2).read more

Tests Available

By gene: FGFR2
Next Generation Sequencing
Test Code: 1105
Deletion / Duplication
Test Code: 1106
NGS/Del Dup Comprehensive
Test Code: 1514

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Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81479 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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