Leber Congenital Amaurosis (LCA) belongs to the spectrum of early-onset retinal dystrophies. It is a group of monogenic inherited retinal degenerations that show early onset and severe visual dysfunction. Although it is a genetically and phenotypically heterogeneous group of disease it presents in the first few years of life, most often before the age of 1 year and is characterized by wandering nystagmus and reduced vision from birth. Patients may have normal intelligence, but data has demonstrated that as many as 20% develop intellectual disability. The genetic causes of these diseases are due to mutations in genes that play a role in the development and function of the retina and is generally inherited in an autosomal recessive pattern.
The Igenomix Leber Congenital Amaurosis Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of blindness 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.
- The Igenomix Leber Congenital Amaurosis Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Amaurotic pupil response
- Visual loss
- Cone-shaped cornea
- Abnormal retinal pigment
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 novel gene therapy and medical care.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Detect novel disease-causing genes and novel variant in disease-causing genes.
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