Test Name: Chronic Kidney Disease (CKD) Gene Panel
Overview
The Chronic Kidney Disease (CKD) Gene Panel is a comprehensive genetic test designed to identify disease-causing variants associated with inherited kidney disorders that may lead to chronic kidney disease. This panel analyzes multiple genes linked to structural, functional, and metabolic kidney abnormalities, helping clinicians determine the underlying genetic cause of kidney dysfunction.
Who Should Consider This Test?
Individuals with unexplained chronic kidney disease
Early-onset kidney disease
Family history of kidney disorders or kidney failure
Congenital anomalies of the kidney and urinary tract (CAKUT)
Cystic kidney diseases
Nephrotic syndrome or glomerular disorders
Tubulointerstitial kidney diseases
Patients being evaluated for kidney transplantation
Genes Included
The panel evaluates clinically relevant genes associated with:
Polycystic kidney disease (PKD1, PKD2, etc.)
Alport syndrome (COL4A3, COL4A4, COL4A5)
Nephronophthisis-related disorders
Focal Segmental Glomerulosclerosis (FSGS)
Congenital nephrotic syndrome
Tubular and electrolyte disorders
Inherited renal ciliopathies
Other hereditary kidney diseases
Clinical Utility
Identifies the genetic cause of CKD
Assists in accurate diagnosis and disease classification
✔ Early and precise diagnosis ✔ Improved patient management ✔ Informed family planning decisions ✔ Reduced need for invasive diagnostic procedures ✔ Identification of at-risk family members
Reporting
A detailed report is provided with identified pathogenic, likely pathogenic, and clinically significant variants, interpreted according to current international guidelines.