Genetic testing in nephrology plays a critical role in understanding the underlying causes of kidney disease, particularly in cases with early onset, familial patterns, or atypical presentation. Many kidney disorders such as diabetes and cystic kidney disease have a genetic basis that can be identified through targeted or comprehensive genetic analysis. Early identification of a genetic cause can improve diagnostic accuracy, guide clinical management, and inform prognosis. It also enables proactive screening of at-risk family members and supports informed family planning. Genetic insights are increasingly essential for tailoring treatment strategies and identifying patients who may benefit from emerging therapies or clinical trials. Nephrology genetic testing is an important step toward more personalised, proactive, and effective kidney care.

Genetic testing for hereditary kidney disease can help you, the healthcare practitioner, to:

Identify patients who are at risk of developing kidney disease, enabling them to take preventative measures where possible.
Closely monitor patients with a known predisposition to kidney disease thereby facilitating early detection and treatment, which is known to have a positive impact on patient outcomes.
Identify and access targeted therapies that may benefit your patient.
Identify family members who may also be a risk, roll out cascade testing, and begin taking preventative measures where appropriate.
Direct your patients towards helpful patient resources and support groups.
Assist your patients with family planning.

Nephrology Gene Panel Tests available at Genseq

Genseq offer 19 nephrology gene panels (see table below). These are in silico panels based on whole exome sequencing (WES) data. All panels include single nucleotide variants (SNV), small insertions/deletions (indels), and copy number variation (CNV) analysis. Selection of a gene panel relevant to the patient phenotype is recommended to allow for accurate interpretation and help avoid accidental findings.

Test Code

Test Name

No. of Genes

Panel Content

NEE1002

Alport/Haematuria Panel

COL4A1, COL4A3, COL4A4, COL4A5, MYH9

NEE1003

Atypical Haemolytic Uraemic Syndrome Panel

C3, CD46, CFB, CFH, CFHR1, CFHR3, CFI, DGKE, MMACHC

NEE1004

Bartter Syndrome Panel

AP2S1, BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3

NEE1001

Comprehensive Nephrology Panel

330

Download Panel Content

NEE1005

Cystic Kidney Disease Panel

ALG5, ALG8, ALG9, ANKS6, CEP164, CEP83, CLCN5, COL4A1, CYP24A1, DNAJB11, DZIP1L, FLCN, GANAB, GLA, HNF1B, IFT140, INVS, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, TMEM67, TSC1, TSC2, TTC21B, TULP3, UMOD, VHL, WDR19, XPNPEP3

NEE1006

Diabetes Insipidus, Nephrogenic Panel

AQP2, AVP, AVPR2

NEE1007

Extreme Early-onset Hypertension Panel

CUL3, CYP11B1, CYP11B2, CYP17A1, HSD11B2, KCNJ5, KLHL3, MTX2, NR3C1, NR3C2, SCNN1B, SCNN1G, TTC21B, WNK1, WNK4

NEE1008

Hereditary Systemic Amyloidosis Panel

APOA1, APOA2, APOC2, FGA, GSN, LYZ, TTR

NEE1009

Membranoproliferative Glomerulonephritis including C3 Glomerulopathy Panel

C3, CFB, CFH, CFHR1, CFHR2, CFHR5, CFI, DGKE

NEE1010

Nephrocalcinosis or Nephrolithiasis Panel

AGXT, APRT, ATP6V0A4, ATP6V1B1, BSND, CA2, CASR, CLCN5, CLCNKB, CLDN16, CLDN19, CYP24A1, FAM20A, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, MOCOS, OCRL, PHEX, RRAGD, SLC12A1, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, STRADA, VIPAS39, VPS33B, WDR72, XDH

NEE1011

Proteinuric Renal Disease Panel

ACTN4, AMN, APOE, ARHGDIA, CD151, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DAAM2, DGKE, DLC1, FAT1, FN1, GLA, GON7, INF2, ITGA3, ITSN1, LAGE3, LAMB2, LCAT, LMX1B, MAGI2, MYH9, MYO1E, NOS1AP, NPHS1, NPHS2, NUP107, NUP133, NUP85, NUP93, OCRL, OSGEP, PAX2, PDSS2, PLCE1, PODXL, PRDM15, SCARB2, SGPL1, SMARCAL1, TBC1D8B, TNS2, TP53RK, TPRKB, TRIM8, TRPC6, WDR73, WT1, YRDC

NEE1012

Pseudohypoaldosteronism Panel

CUL3, HSD11B2, KCNJ5, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4

NEE1013

Rare Multisystem Ciliopathy Panel

113

AHI1, ALMS1, ANKS6, ARL13B, ARL3, ARL6, ARMC9, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, CBY1, CC2D2A, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP410, CFAP418, CILK1, CPLANE1, CRB2, CSPP1, DDX59, DHCR7, DLG5, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EVC, EVC2, EXOC3L2, FAM149B1, GLI3, GLIS2, HNF1B, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, INPP5E, INTU, INVS, IQCB1, IQCE, KIAA0586, KIAA0753, KIF7, LAMA1, LBR, LZTFL1, MAPKBP1, MKKS, MKS1, NEK1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PIBF1, PIK3C2A, PKD1, PKD2, PKHD1, PMM2, PRKACA, PRKACB, PSKH1, RPGRIP1L, SBDS, SCLT1, SDCCAG8, SUFU, TBC1D32, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOGARAM1, TRAF3IP1, TTC21B, TTC8, TXNDC15, VPS13B, WDPCP, WDR19, WDR35, XPNPEP3, ZSWIM6

NEE1014

Renal Malformations (CAKUT) Panel

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

NEE1015

Renal Super Panel Broad

293

Download Panel Content

NEE1016

Renal Tubulopathies Panel

AP2S1, AQP2, ATP1A1, ATP6V0A4, ATP6V1B1, AVPR2, BSND, CA2, CASR, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM2, CTNS, CUL3, CYP24A1, FAH, GATM, GNA11, HNF1B, HNF4A, KCNJ1, KCNJ10, KCNJ16, KLHL3, MAGED2, NR3C2, REN, RMND1, RRAGD, SARS2, SCNN1A, SCNN1B, SCNN1G, SEC61A1, SLC12A1, SLC12A3, SLC22A12, SLC2A2, SLC2A9, SLC4A1, SLC4A4, SLC5A2, TRPM6, UMOD, VIPAS39, VPS33B, WDR72, WNK4

NEE1017

Tubulointerstitial Kidney Disease Panel

ANKS6, CEP164, CEP83, DNAJB11, GATM, HNF1B, INVS, MAPKBP1, MT-TF, MUC1, NPHP1, NPHP3, NPHP4, REN, SEC61A1, TMEM67, TTC21B, UMOD, WDR19, XPNPEP3

NEE1018

Unexplained Kidney Failure in Young People

ACE, ACTG2, ACTN4, AGT, AGTR1, AMN, ANKS6, ARHGDIA, C3, CD46, CEP164, CFB, CFH, CFHR5, CFI, CHD7, CHRM3, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CTNS, CUBN, DGKE, DSTYK, EYA1, FAN1, FRAS1, FREM1, FREM2, GATA3, GLA, GLI3, GRIP1, HNF1B, HPSE2, INF2, INVS, ITGA3, ITGA8, LAMB2, LMX1B, LRIG2, MUC1, MYH9, MYO1E, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NUP107, NUP93, OFD1, PAX2, PKD1, PKD2, PKHD1, PLCE1, REN, RPGRIP1L, RRM2B, SALL1, SARS2, SCARB2, SGPL1, SIX5, SMARCAL1, TBX18, TMEM67, TRAP1, TRIM8, TRPC6, TSC1, TSC2, TTC21B, UMOD, VHL, VIPAS39, VPS33B, WT1, XPNPEP3

NEE1019

Unexplained Young-onset End-stage Renal Disease Panel

259

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