FGFR2 related craniosynostosis

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). They include Apert syndrome (MIM 101200), Beare-Stevenson cutis gyrata syndrome (BSTVS; MIM 123790), Crouzon syndrome (MIM 123500), Jackson-Weiss syndrome (JWS; MIM123150), Pfeiffer syndrome (MIM 101600) and FGFR2 related isolated coronal synostosis. All are autosomal dominant.   Penetrance varies with the specific craniosynostosis type.  Many FGFR2 mutations are associated with advanced paternal age.

Genes(s)

FGFR2

Disease Group(s)

Craniosynostosis and Craniofacial Disorders

MIM

-

Billing

81479 x 1

Ordering

Test Code
1514
Additional Test Codes
1105 —Next Generation Sequencing Only, 1106 — Deletion / Duplication Only
Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl) Fibroblasts: 2 confluent T-25 flasks Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

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