Craniosynostosis consists of the premature fusion of one or more cranial sutures, producing a secondary distortion of the shape of the skull that results in skull deformities with a variable presentation. Craniosynostosis can occur in isolation or as part of a syndrome (ORPHA:1531).
The craniosynostosis service aims to bring together all genetic forms of craniosynostosis, whether in isolation or as part of a more complex syndrome.
The benefits derived from a genetic diagnosis are aimed at closing the diagnosis and family genetic counseling.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
3) Pack the sample
Please pack the sample in a way to prevent leakage
4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202211856
Virtual panel based on whole exome sequencing, aimed at analyzing all genes of moderate, high, and low evidence related to craniosynostosis.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
