Cleft Lip and Palate Precision Panel

Overview

• Cleft Lip and Palate (CLP) are a group of malformations of unknown etiology with overlapping phenotypes affecting both females and males. They are the most common congenital malformations of the craniofacial region. Cleft lip and palate can be an isolated finding (non-syndromic), or they can present as a syndromic form. In general, sporadic cases with no family history are related to environmental risks, while the presence of one or more affected relatives strongly suggests that genetic factors are the main contributor.  The etiology is multifactorial including both genetic predisposition and environmental factors. Individuals with cleft lip and/or palate may experience difficulties with feeding, talking, hearing and social integration. Typically, individuals affected with these disorders have a higher morbidity and mortality throughout life than do unaffected individuals. 
• The Igenomix Cleft Lip and Palate Precision Panel can be used to make a directed and accurate diagnosis of syndromic versus nonsyndromic causes of cleft lip and/or palate ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

• The Igenomix Cleft Lip and Palate Precision Panel is indicated for those patients with a clinical suspicion or diagnosis presenting with the following manifestations: 
  • Split in the lip and/or roof of the mouth 
  • Feeding difficulty 
  • Difficulty swallowing 
  • Nasal speaking voice 
  • Chronic ear infections 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
• Early initiation of multidisciplinary treatment including surgical repair and prevention for future pregnancies if actionable.  
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
• Improvement of delineation of genotype-phenotype correlation. 
• Identification of the genetic basis of these associated disorders for a better insight into the mechanisms of craniofacial development.  

Genes & Diseases