Nephrology
Atypical Haemolytic Uraemic Syndrome Panel
Overview
Test Name
Test Code
Test Category
Test Subcategory
Disease(s) Targeted
Who Is The Test For?
Test Approach
Whole exome sequencing (WES) with in silico gene panel analysis.
No. of Genes
Panel Content
Deliverables
Clinical Report (Download a sample report here)
Turnaround Time
~3-6 weeks*
Specimen Requirements
For detailed information about the sample requirements, please consult our clinical sample requirements page.
About Atypical haemolytic uraemic syndrome
Atypical Haemolytic Uremic Syndrome (aHUS) is a rare, serious blood disorder causing blood clots in small vessels, especially in the kidneys, leading to anaemia, low platelet counts (thrombocytopenia), and kidney failure. Its prevalence is estimated to be 0.5 to 2 cases per million people. The disorder occurs most frequently in children under the age of 5 years, with an annual incidence of 6.1 cases per 100,000 children under 5 years, as compared with an overall incidence of 1 to 2 cases per 100,000.
About 60% of aHUS is caused by genetic variants affecting components of complement, with the most common genes involved being CFH, CD46, CFI, CFB, C3, and CFHR genes (e.g: CFHR1 and CFHR3). Environmental factors like infections, certain medications, and pregnancy can trigger episodes of the disease in genetically predisposed individuals. The syndrome is typically inherited in an autosomal dominant manner with reduced penetrance. Some genetic forms (e.g. DGKE) are inherited in an autosomal recessive manner
Gene Panel Workflow
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