285 Newton Road, 5292 CBRB KidneySeq™ Version 3 Gene List Iowa City, IA 52242-1078 Iowa Institute of Human Phone: 319-335-3688 Fax: 319-335-3484 CLIA ID 16D2053873 CAP# 8864771 www.medicine.uiowa.edu/humangenetics/

CAKUT Ciliopathies/tubulointerstitial Branchio -oto-renal EYA1, SIX1, SIX5 AD Interstitial , karyomegalic FAN1 AR IFT80, IFT140, DYNC2H1, CAKUT with VACTERL TRAP1 AR Jeune syndrome (JN+) AR NEK1, TTC21B CHARGE syndrome CHD7, SEMA3E AD AHI1, ARL13B, ATXN10, Cogan oculomotor apraxia NPHP1 AR C2CD3, C5orf42, CC2D2A, AGTR1, CHD1L, DLG1, DSTYK, CEP290, CEP41, CSPP1, EYA1, FOXP1, GATA3, GDNF, IFT172, INPP5E, KIF7, NPHP1, AD & AR: ZNF423 AD: All others (JN+) Common CAKUT HNF1B, KIF12, PAX2, PBX1, OFD1, RPGRIP1L, TCTN1, AR: all others AR: TRAP1 RET, ROBO2, SALL1, SIX2, SIX5, TCTN3, TMEM138, TMEM216, SLIT2, SRGAP1, TBX18, TRAP1 TMEM237, TMEM67, TTC21B, FRAS1, FREM1, FREM2, ZNF423 Fraser syndrome AR GREM1, GRIP1 AHI1, ANKS6, ATXN10, IQCB1, Hypoparathyroidism, sensorineural deafness, CEP164, CEP290, CEP83, GATA3 AD GLIS2, INVS, NEK8, NPHP1, AD & AR: ZNF423 and renal dysplasia Juvenile (JN) BMP4, DACH1, DSTYK, FGF20, AD: All others NPHP3, NPHP4, RPGRIP1L, AR: all others Isolated renal hypo-dysplasia HNF1B, ITGA8, PAX2, RET, AR: DACH1, FGF20, SLC41A1, TMEM67, TTC21B, SALL1, SIX2 ITGA8 WDR19, XPNPEP3, ZNF423 Isolated renal hypoplasia: Potter syndrome B9D1, B9D2, CC2DA, CEP290, RET, UPK3 AR Meckel syndrome (MKS)/Meckel-Gruber syndrome KIF14, MKS1, NPHP3, (oligohydramnios) renal adysplasia AR Hypogonadotropic hypogonadism with or without XL: ANOS (JN+) RPGRIP1L, TCTN2, TMEM107, ANOS1, CHD7, FGFR1 anosmia () AD: CHD7, FGFR1 TMEM216, TMEM237, TMEM67 Mayer-Rokitansky-Küster-Hauser syndrome WNT4 AD Medullary cystic 2 UMOD AD Multicystic dysplastic kidney CHD1L, HNF1B, ROBO2, SALL1 AD Orofaciodigital syndrome 1 OFD1 XLD CHD1L, HNF1B, ROBO2, SALL1, Polycystic , autosomal recessive Posterior urethral valves AD PKHD1 AR SIX2 (ARPKD) Polycystic kidney disease, autosomal dominant Renal-Coloboma syndrome PAX2 AR GANAB, PKD1, PKD2 AD (ADPKD) Renal cysts and syndrome HNF1B AD Renal cysts and diabetes syndrome HNF1B AD Renal tubular dysgenesis ACE, AGT, AGTR1, REN AR Serpentine fibula with polycystic kidney disease Townes-Brocks syndrome SALL1 AD (SFPKS)/ NOTCH2, AD Hajdu-Cheney syndrome (HJCYS) Unilateral DSTYK, HNF1B, RET, SALL1 AD Sensenbrenner syndrome/Cranioectodermal DSTYK, EYA1, HNF1B, RET, IFT122, IFT43, WDR19, WDR35, AR UPJ obstruction AD dysplasia (CED) ROBO2, SALL1 CEP290, IQCB1, NPHP1, Senior-Loken syndrome- (JN with retinitis UVJ obstruction CHD1L, PAX2, SIX5 AD NPHP3, NPHP4, SDCCAG8, AR pigmentosa) DSTYK, EYA1, GATA3, HNF1B, WDR19 Vesicoureteral reflux RET, ROBO2, SALL1, SOX17, AD Disorders of tubular ion transport TNXB, UPK3A Adrenal hyperplasia, congenital (11b-OH deficiency) CYP11B1 AR Ciliopathies/tubulointerstitial diseases Apparent mineralocorticoid excess, syndrome of HSD11B2 AR Alagille syndrome JAG1, NOTCH2 AD APRT deficiency (stones and ESRD) APRT AR Autosomal dominant tubulo interstitial disease (AD) HNF1B, REN, UMOD AD BSND, CaSR, CLCNKA, CaSR (AD) ARL6, BBIP1, BBS1, BBS2, CLCNKB, KCNJ1, MAGED2, AR: all others BBS4, BBS5, BBS7, BBS10, SLC12A1 BBS12, C8orf37, CEP290, AR & DR: BBS1 Bardet-Biedl syndrome (BBS) Cystinosis CTNS AR IFT27, IFT74, LZTFL1, MKKS, AR: all others PTHB1, SDCCAG8, TRIM32, Cystinuria SLC3A1, SLC34A1, SLC7A9 AD & AR TTC8, WDPCP Dent disease CLCN5, OCRL XLR COACH syndrome (JN+) CC2D2A, RPGRIP1L, TMEM67 AR Fanconi-Bickel syndrome SLC2A2 AR HANAC syndrome COL4A1 AD Iowa Institute of KidneySeq™ v3 Gene List CLIA ID 16D2053873 CAP# 8864771

Disorders of tubular ion transport Glomerular diseases AR: ATP7B, CTNS, FAH, ATP7B, CLCN5, CTNS, Alstrom syndrome ALMS1 AR SLC34A1 , generalized proximal defect EHHADH, FAH, HNF4A, APOA1, B2M, FGA, GSN, LYZ, AD: EHHADH, HNF4A Amyloidosis, hereditary AD SLC34A1 NLRP3TNFRSF1A, TTR XR: CLCN5 Congenital lung disease, , and ITGA3 AR CLCNKB, SLC12A3 AR mild epidermolysis bullosa Glucosuria, renal SLC5A1, SLC5A2 AR & AD Congenital nephrotic syndrome (Finnish type) NPHS1 AR , congenital CYP11B2 AR COQ2 nephropathy COQ2 AR AD: CNNM2, FXYD2 CLDN16, CLDN19, CNNM2, Denys-Drash syndrome; Frasier syndrome WT1 AD Hypomagnesemia , renal AR: CLDN16, CLDN19, EGF, FXYD2, HNF1B, TRPM6 TRPM6 Diffuse mesangial sclerosis ARHGDIA, PLCE1, WT1 AR CACNA1D, CACNA1H, Epstein/Fechtner - renal disease with , familial AD MYH9 AD CYP11B1, KCNJ5 macrothrombocytopenia Hyperaldosteronism, glucocorticoid remediable CYP11B1-CYP11B2 fusion AD GLA XL Hyperuricemia, pulmonary hypertension, renal Familial Mediterranean MEFV AD&AR SARS2 AR failure, and alkalosis syndrome (HUPRAS) ACTN4, ANLN, ARHGAP24, Hypercalciuria ADCY10 AD CD2AP, CFI, COL4A3, COL4A4, AD: All others Focal segmental (FSGS) AD/XL COL4A5, E2F3, INF2, LMX1B, XL: COL4A5 Hyperoxaluria, primary AGXT, GRHPR, HOGA1 AR PAX2, TRPC6, WT1 AD: CUL3, KLHL3, Hypertension with (Gordon's APOL1, COQ6, CRB2, ITGB4, CUL3, KLHL3, WNK1, WNK4 WNK1, WNK4 Focal segmental glomerulosclerosis (FSGS) AR AR syndrome) , II MYO1E, NPHP4, TTC21B AR: KLHL3 ADCK4, ALG1, ARHGDIA, Hypocalcemia, autosomal dominant CASR AD CUBN, DGKE, DHTKD1, DLC1, AD: FGF23 EMP2, FAT1, LAMB2, NPHS1, DMP1, CLCN5, ENPP1, FGF23, AR: SLC34A3, Focal segmental glomerulosclerosis (AR)/SRNS NPHS2, NUP107, NUP205, AR Hypophosphatemic rickets PHEX, SLC34A3, VDR ENPP1,DMP1 NUP93, PLCE1, PDSS2, PMM2, XLR: CLCN5, PHEX PTPRO, SCARB2, SGPL1, AD: SLC2A9 XPO5, ZMPSTE24 Hypouricemia, renal SLC2A9, SLC22A12 AR: SLC22A12 Galloway-Mowat syndrome WDR73 AR Liddle syndrome (AD) (pseudoprimary SCNN1B, SCNN1G AD Glomerulopathy with fibronectin deposits FN1 AD hyperaldosteronism) AD & AR: AQP2 Infantile sialic acid storage disease SLC17A5 AR Nephrogenic AQP2, AVPR2 XLR: AVPR2 Lipodystrophy, familial, partial LMNA AD Nephrogenic syndrome of inappropriate antidiuresis AVPR2 XLR Lipoprotein glomerulopathy APOE Nephrolithiasis/osteoporosis, hypophosphatemic SLC9A3R1 AD Muckle-Wells syndrome NLRP3 AD NR3C2, SCNN1A, SCNN1B, AD: NR3C2 Pseudohypoaldosteronism I Nail patella syndrome LMX1B AD SCNN1G, AR: SCNN1A, SCNN1G ATP6V0A4, ATP6V1B1, Nephropathy with pretibial epidermolysis bullosa and , distal AD & AR CD151 AR SLC4A1, deafness ATP7B, CLCN5, CTNS, AD: EHHADH, HNF4A Nephrotic syndrome - steroid sensitive PLCG2 Renal tubular acidosis, proximal EHHADH, FAH, HNF4A, AR: SLC34A1,SLC4A4 Pierson syndrome - nephrotic syndrome with LAMB2 AR SLC34A1,SLC4A4 XR: CLCN5 microcoria AD: CUL3, KLHL3, CUL3, KLHL3, NR3C2, Thin disease (benign familial NR3C2WNK1, WNK4 COL4A3, COL4A4 AD Renal tubular acidosis, type IV SCNN1A, SCNN1B, SCNN1G, ) AR: KLHL3, SCNN1A, WNK1, WNK4 Nephrolithiasis/ SCNN1G APRT deficiency (stones and ESRD) APRT AR Renal tubular acidosis, with CA2 AR CaSR (AD) Bartter syndrome CaSR, KCNJ1, SLC12A1 Renal tubular disease, hypertension related NEDD4L AR: all others SESAME syndrome / East syndrome KCNJ10 AR Cystinuria SLC3A1, SLC34A1, SLC7A9 AD & AR Glomerular diseases Dent disease CLCN5, OCRL XLR AR COL4A3, COL4A4 COL4A3, COL4A4, COL4A5, AD: COL4A3 COL4A6 XLD: COL4A5 Iowa Institute of Human Genetics KidneySeq™ v3 Gene List CLIA ID 16D2053873 CAP# 8864771

Nephrolithiasis/nephrocalcinosis Other AR: ATP7B, CTNS, FAH, ATP7B, CLCN5, CTNS, Arthrogryposis, renal dysfunction VIPAS39, VPS33B AR SLC34A1 Fanconi syndrome, generalized proximal defect EHHADH, FAH, HNF4A, Charcot-Marie Tooth disease (CMTDIE) INF2 AD AD: EHHADH, HNF4A SLC34A1 XR: CLCN5 CHARGE syndrome CHD7, SEMA3E AD AR: CLDN16, CLDN19, Hypomagnesemia with hypercalciuria CLDN16, CLDN19, Duane-radial ray syndrome (Okihiro syndrome) SALL4 AD TRPM6 Finlay-Marks syndrome KCTD1 AD Hypercalcemia, infantile CYP24A1 AR Lesch-Nyhan syndrome HPRT1 XLR Hypercalciuria ADCY10 AD Hypercalcemia, infantile CYP24A1 AR Hyperoxaluria, primary AGXT, GRHPR, HOGA1 AR Hyperuricemia, pulmonary hypertension, renal SARS2 AR Hypocalcemia, autosomal dominant CASR AD failure, and alkalosis syndrome (HUPRAS) AD: FGF23 Mitochondrial cytopathies COQ2 AR DMP1, CLCN5, ENPP1, FGF23, AR: SLC34A3, Hypophosphatemic rickets PHEX, SLC34A3, VDR ENPP1,DMP1 Pallister-Hall syndrome GLI3 AD XLR: CLCN5, PHEX Rubinstein-Taybi syndrome CREBBP AD AD: SLC2A9 Hypouricemia, renal SLC2A9, SLC22A12 Schimke immuno-osseus dysplasia SMARCAL1 AR AR: SLC22A12 SERKAL syndrome – 46XX sex reversal with WNT4 AR Lesch-Nyhan syndrome HPRT1 XLR dysgenesis of kidneys, adrenal and lungs Nephrolithiasis/osteoporosis, hypophosphatemic SLC9A3R1 AD SESAME syndrome / East syndrome KCNJ10 AR ATP6V0A4, ATP6V1B1, Renal tubular acidosis, distal AD & AR Simpson-Golabi-Behmel syndrome GPC3 XLR SLC4A1, ATP7B, CLCN5, CTNS, AD: EHHADH, HNF4A Smith-Lemli-Optiz syndrome DHCR7 AR Renal tubular acidosis, proximal EHHADH, FAH, HNF4A, AR: SLC34A1,SLC4A4 TSC1, TSC2 AD SLC34A1,SLC4A4 XR: CLCN5 von Hippel-Landau syndrome – familial cancer VHL AD Xanthine oxidase deficiency XDH AR syndrome Williams-Beuren syndrome 7q 11.23 AD Xanthine oxidase deficiency XDH AR

CPT Codes: • KidneySeq™: • Comprehensive testing: 81404, 81405, 81406, 81407, 81408, 81479 • CAKUT: 81405, 81406, 81407, 81479 • Ciliopathies/tubulointerstitial diseases: 81404, 81405, 81406, 81407, 81408, 81479 • Glomerular diseases: 81404, 81405, 81406, 81407, 81408, 81479 • Nephrolithiasis/nephrocalcinosis: 81404, 81405, 81406, 81407, 81479 • Tubular Ion transport disorders: 81404, 81405, 81406, 81407, 81479 • APOL1 Genotype Testing: 81479 • Familial Testing: Contact Laboratory