Cutis Laxa Precision Panel

Overview

• Cutis Laxa (CL), also known as elastolysis, is an inherited or acquired group of connective tissue disorders characterized by inelastic skin that hangs loosely in folds. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, the clinical presentation and mode of inheritance is heterogeneous. Clinically, multiple organ systems are involved, leading to a severe, lethal multisystem disorder. Both acquired and inherited forms exist, the latter being inherited in an autosomal dominant, recessive and X-linked recessive patterns. Inborn errors of metabolism have been associated.  

• The Igenomix Cutis Laxa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features 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 Cutis Laxa Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
  • Early appearing loose, wrinkled skin, hanging in folds most prominent around the eyes, face, neck, shoulders and thighs 
  • Osteoporosis 
  • Gastrointestinal manifestations: diverticula of small and large bowel 
  • Pulmonary findings: bronchiectasis, emphysema 
  • Cardiovascular findings: cardiomegaly, congestive heart failure, murmurs, aortic aneurysms 

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 of medical treatment and surveillance to prevent complications and/or surgical care or redundant skin folds and other organic manifestations. 
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
• Improvement of delineation of genotype-phenotype correlation due to overlapping features of connective tissue disorders. 

Genes & Diseases