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Rare Disease, also known as “Orphan Disease”, refers to the collection of extremely rare diseases with very low incidence rates. Approximately 80% of all rare diseases are caused by genetic disorders, and as such, the usage of the word “rare diseases” often refers specifically to “rare genetic disorders”. According to WHO, there currently exist over 5000 confirmed rare diseases, 50% of which may manifest at birth or during childhood. Once onset, these diseases often progress very rapidly with very high mortality rates due to a lack of effective treatments under most circumstances. As such, it is crucial that rare diseases are diagnosed and treated in their early stages to ensure they do not progress beyond medical control.
Retinoblastoma Genetic Testing
Focusing on Rare Diseases, Together
Retinoblastoma (RB) is a rare genetic disease that mostly develop on infants and toddlers. Incidence rate on newborns is approximately 1/15000. An estimated 9000 children develop retinoblastoma worldwide each year.
Retinoblastoma is mainly caused by mutations of the RB1 gene, which may be inherited from either parents (approx. 10% of all cases), or spontaneously occur in early stages of pregnancy or fetal development (approx.. 90% of all cases). Another cause of RB is copy number variation of the MYCN gene with no RB1 mutations, which accounts for approximately 2% of unilateral RB patients.
The most common early symptom of RB is leukocoria where a children’s eye/eyes display an abnormal white reflection from the retina. A comprehensive analysis of the RB1 gene through the use of NGS or other sequencing technologies may enable accurate and precise diagnosis of the disease and lead to appropriate early treatment which is most effective. In addition, comprehensive knowledge of the patient’s genetic mutations may be used to assist other family members in detecting if they carry the same mutations as well as in aiding in monitoring/treatment of the disease.
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