Branchiootorenal Syndrome Precision Panel – 4 genes

Overview

• Branchiootorenal Syndrome (BOR) is a rare autosomal dominant disorder that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. It is characterized by branchial arch anomalies, hearing loss and renal anomalies ranging from hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. It is a clinically heterogeneous disorder with variability in the presence, severity and type of branchial arch, otologic, audiologic and renal abnormality.  

• The Igenomix Branchiootorenal Syndrome Precision Panel can be used to make an accurate and directed diagnosis 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 Branchiootorenal Syndrome Precision Panel  is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
  • Deafness 
  • Preauricular pits 
  • Auricular malformations 
  • Renal anomalies 
  • Branchial cleft cyst and fistula 
  • Long, narrow face 
  • Cleft palate 

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 treatment with a multidisciplinary team in the form surgical care of anatomic defects, surveillance for hearing impairment and renal function and prevention of complications such as infections. 
• Risk assessment and genetic counselling of asymptomatic family members due to the autosomal dominant mode of inheritance.  
• Improvement of delineation of genotype-phenotype correlation. 

Genes & Diseases

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance 

** HGMD: Number of clinically relevant mutations according to HGMD