OROFACIODIGITAL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 15 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Orofaciodigital Syndrome panel analyzes 15 genes (C2CD3, CPLANE1, DDX59, INTU, KIF7, NEK1, OFD1, PDE6D, SCLT1, TCTN3, TMEM138, TMEM216, TMEM231, TOPORS, and WDPCP) implicated in a heterogeneous group of congenital ciliopathies characterized by craniofacial, oral, digital, and, in some cases, renal or cerebral malformations. These alterations result from defects in the structure and function of the primary cilium, which is essential for cell signaling during embryonic development.
Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for diagnosis confirmation, definition of the clinical subtype (OFD type I and other variants), and guidance for family genetic counseling. Some of the most relevant genes are OFD1, TMEM216, and TCTN3. A complete list of genes can be obtained by contacting Genotica.
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