Renal Diseases
Hereditary renal diseases are genetic disorders that impair kidney function and can lead to renal failure. They encompass a variety of conditions affecting both glomerular and tubulointerstitial function, often associated with abnormalities of kidney structure or the urinary tract.
Request Test
- Specimen: EDTA whole blood
- Method of Examination: Next-Generation Sequencing (if applicable, Sanger sequencing, MLPA, molecular diagnostics via PCR)
- Turnaround Time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC OFFERING
The following table presents our indication-specific diagnostic services in this area:
| INDICATION | ANALYSIS |
| Alport Syndrome | Gene Panel |
| Focal Segmental Glomerulosclerosis (FSGS) / Nephrotic Syndrome | Gene Panel |
| Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) | Gene Panel |
| Nephrolithiasis/Nephrocalcinosis | Gene Panel |
| Nephronophthisis | Gene Panel |
| Tubulointerstitial Kidney Diseases (ADTKD) | Gene Panel |
The genes examined in the respective gene panels are always based on the current versions of the Genomics England PanelApp, the PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it is a complex syndromic condition, it is possible to request Exome Sequencing based on phenotypic features.