Craniosynostosis, including FGFR-related craniosynostosis and their differential diagnosis and new craniosynostosis genes [incl. Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans, Muenke syndrome, Saethre-Chotzen syndrome, Baller-Gerold syndrome, Carpenter syndrome, Cole-Carpenter syndrome 1, craniofrontonasal syndrome, Greig cephalopolysyndactyly, Shprintzen-Goldberg syndrome, Boston-type craniosynostosis, Loeys-Dietz Syndrome, Robinow-Sorauf syndrome, Meier-Gorlin syndrome 7, cranioectodermal dysplasia, 3MC syndrome, Fontaine progeroid syndrome, Hamamy syndrome, Curry-Jones syndrome, Sweeney-Cox syndrome and others]

Panels

ALX4, CDC45, COLEC11, CTNNA1, CYP26B1, EFNB1, ERF, FGF9, FGFR1, FGFR2, FGFR3, FREM1, GLI2, GLI3, GPC4, HUWE1, IFT122, IL11RA, IRX5, IFT43, KAT6A, MASP1, MBL2, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, SEC24D, SOX11, SKI, SLC25A24, SMAD6, SMO, SOX6, TCF12, TFAP2B, TGFBR1, TGFBR2, TWIST1, WDR19, ZIC1

How does it work?

Easy and secure, with the support of our Professionals.

Order the test

Buy the test online today. If you don't have a Geneticist, you can add the Genetic Counseling option.

Specimen collected

Receive our kit for sample taking at home or organize the sample taking with a professional nuerse at home and wait for our courier to collect it.

Testing performed

It will take just a few weeks to perform the test, from the DNA extraction to the Medical Report.

Results delivered

We'll send you the Medical Report by email and our Geneticist will explain you the results online.