Nephrology
Renal Malformations (CAKUT) Panel
Overview
Test Name
Renal Malformations (CAKUT) Panel
Test Code
NEE1014
Test Category
Gene Panels
Test Subcategory
Nephrology
Disease(s) Targeted
Renal malformations (CAKUT)
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of renal malformations (CAKUT).
Test Approach
Whole exome sequencing (WES) with in silico gene panel analysis.
No. of Genes
59
Panel Content
ACE, ACTG2, AGT, AGTR1, ANOS1, BNC2, CCNQ, CEP55, CHD7, CHRM3, CHRNA3, CTU2, DHCR7, DSTYK, EYA1, FRAS1, FREM1, FREM2, GATA3, GLI3, GPC3, GREB1L, GRIP1, HAAO, HNF1B, HOXA13, HPSE2, ITGA8, JAG1, KDM6A, KMT2D, KYNU, LIFR, LRIG2, LRP4, MYOCD, NADSYN1, NIPBL, NOTCH2, NPHP3, PAX2, PBX1, PLVAP, REN, RET, ROBO1, ROBO2, ROR2, SALL1, SIX5, STRA6, TBC1D1, TBX18, TFAP2A, TMEM260, TRAP1, WBP11, ZIC3, ZMYM2
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 Renal malformations (CAKUT)
Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of developmental disorders affecting the kidneys, ureters, bladder, or urethra. CAKUT affects over 1% of live births and accounts for 40–50% of paediatric chronic kidney failure. Genetic factors play a significant role, with variants in numerous genes like PAX2, TBX18 and FREM1 implicated, which can show different inheritance patterns, such as autosomal dominant or recessive.
Gene Panel Workflow
Order a test using our clinical portal
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