Overview
-
The Igenomix Hyperbilirubinemia Precision Panel can be used to make a directed and accurate differential diagnosis of jaundice, 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.
-
Hyperbilirubinemia is known as high amounts plasma bilirubin levels, causing a yellow discoloration of the skin, sclera, mucous membranes, and other less visible tissues in the newborn.
-
High levels of bilirubin can deposit and accumulate ultimately resulting in neurotoxicity. It can be physiologic or pathologic. There are two types of hyperbilirubinemia depending on the chemical structure of bilirubin: conjugated and unconjugated hyperbilirubinemia. Pathologic congenital causes of hyperbilirubinemia are: Crigler-Najjar syndrome type 1 and 2, Gilbert syndrome, Dubin-Johnson syndrome, and Rotor syndrome. These diseases are inherited mainly in an autosomal recessive pattern.
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 for early phototherapy intervention, pharmacologic or even surgical care.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
References
Rets, A., Clayton, A. L., Christensen, R. D., & Agarwal, A. M. (2019). Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia. International journal of laboratory hematology, 41 Suppl 1, 95–101. https://doi.org/10.1111/ijlh.13014
Watchko J. F. (2013). Genetics and pediatric unconjugated hyperbilirubinemia. The Journal of pediatrics, 162(6), 1092–1094. https://doi.org/10.1016/j.jpeds.2013.01.044
User validation required to continue..
Please type the text you see in the image into the text box and submit
[ Refresh the page to generate a new image. ]
Note:
- If you get here while trying to submit a form, you may have to re-submit the form.
- Access to this domain may need the browser to have javascript and cookie support enabled.
Validation needed due to the detection of invalid input from this client IP address, error code : 338
Number of attempts left : 5