Nephrology
Whole exome sequencing (WES) with in silico gene panel analysis.
Clinical Report (Download a sample report here)
~3-6 weeks*
For detailed information about the sample requirements, please consult our clinical sample requirements page.
Proteinuric renal disease often refers to genetic diseases that cause protein to leak from the blood into the urine because the kidney filters are malfunctioning. A major cause is Alport syndrome, caused by mutations in genes like COL4A3, COL4A4, and COL4A5. These mutations disrupt collagen, leading to damaged kidney filters, and can also affect vision and hearing. Alport syndrome can be inherited in X-linked manner, autosomal dominant, autosomal recessive and as digenic inheritance, depending on the involved gene.
Order a test using our clinical portal
Preview Documents