Craniosynostosis Testing Panel

Test Description:

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 per 2500 live births. There is considerable variability in physical appearance between 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, and the most dramatic appearance would be that of a cloverleaf (kleeblattschadel) skull deformity when multiple sutures are affected. Some individuals have isolated craniosynostosis and are mildly affected with only abnormal head shape. Others are clinically diagnosed with one of the more than 100 inherited conditions with craniosynostosis as a feature.

Testing can be ordered for just 1 or any combination of the genes in our offering. Additionally, point mutation anaysis 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.

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.

For additional details see the Information Sheet PDF below.

Specimen Requirements:

Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).

Shipping: Send at room temperature.

Turnaround Time: 3-4 weeks

CPT Codes: Please contact our Billing Department at 212-241-8717 for this information.

Consent form: Comprehensive General Genetics Consent[PDF] or Comprehensive Prenatal Consent [PDF].

Additional information: Craniosynostosis Information Sheet [PDF]