Craniosynostosis Testing


Related Gene(s): ENFB1, FGFR1, FGFR2, FGFR3, MSX2, POR, RAB23, TWIST1, RECQL4

Craniosynostosis is the early fusion of bones or premature ossification of sutures (the tissues between bones) of the skull. This developmental anomaly often leads to an abnormal head shape. It is common and occurs in approximately 1 in every 2500 live births.

There is considerable variability in the physical appearance of patients with craniosynostosis. A common finding is brachycephaly (a shortened distance between the front and back of the head) due to early closure of one or both coronal sutures. Other sutures can be involved as well. The most dramatic appearance is a cloverleaf (kleeblattschadel) skull deformity, where multiple sutures are affected. Some individuals have isolated craniosynostosis and are mildly affected with only abnormal head shape. Others are diagnosed with one of the more than 100 inherited conditions that can cause craniosynostosis..

Testing can be ordered for just 1 or any combination of the genes in our offering. Additionally, targeted mutation analysis can be performed if a previous familial mutation has already been identified. This testing may be ordered for confirmation of a clinical diagnosis, to facilitate genetic counseling of an affected individual or family member, or for prenatal diagnosis.

To ordering prenatal testing, please contact our laboratory at 212-241-7518.


Specimen Requirements

Postnatal

  • Anticoagulated blood: Two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top)

Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • 2-3 weeks


Resources

General Test Requisition