KidneySeq™ 285 Newton Road, 5292 CBRB Iowa Institute of Human Genetics Iowa City, IA 52242-1078 List Phone: 319-335-3688 Fax: 319-335-3484 www.medicine.uiowa.edu/humangenetics/ CLIA ID 16D2053873 CAP# 8864771 /tubulointerstitial diseases A lagille JAG1, NOTCH2 AD

Autosomal dominant tubulo interstitial disease (AD) HNF1B, REN, UMOD AD ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS10, AR & DR: BBS1 Bardet-Biedl syndrome (BBS) BBS12, C8orf37, CEP290, IFT27, IFT74, LZTFL1, MKKS, AR: all others PTHB1, SDCCAG8, TRIM32, TTC8, WDPCP COACH syndrome (JN+) CC2D2A, RPGRIP1L, TMEM67 AR HANAC syndrome COL4A1 AD Interstitial nephritis, karyomegalic FAN1 AR Jeune syndrome (JN+) IFT80, IFT140, DYNC2H1, NEK1, TTC21B AR AHI1, ARL13B, ATXN10, C2CD3, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, IFT172, INPP5E, KIF7, NPHP1, AD & AR: ZNF423 Joubert syndrome (JN+) OFD1, RPGRIP1L, TCTN1, TCTN3, TMEM138, TMEM216, AR: all others TMEM237, TMEM67, TTC21B, ZNF423 AHI1, ANKS6, ATXN10, IQCB1, CEP164, CEP290, CEP83, AD & AR: ZNF423 Juvenile nephronophthisis (JN) GLIS2, INVS, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, AR: all others SLC41A1, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423 B9D1, B9D2, CC2DA, CEP290, KIF14, MKS1, NPHP3, Meckel syndrome (MKS)/Meckel-Gruber syndrome (JN+) RPGRIP1L, TCTN2, TMEM107, TMEM216, TMEM237, AR TMEM67 Medullary cystic disease 2 UMOD AD Orofaciodigital syndrome 1 OFD1 XLD Polycystic kidney disease, autosomal recessive (ARPKD) PKHD1 AR Polycystic kidney disease, autosomal dominant (ADPKD) GANAB, PKD1, PKD2 AD Renal cysts and diabetes syndrome HNF1B AD Serpentine fibula with polycystic kidney disease (SFPKS)/ NOTCH2, AD Hajdu-Cheney syndrome (HJCYS) Sensenbrenner syndrome/Cranioectodermal dysplasia (CED) IFT122, IFT43, WDR19, WDR35, AR CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, Senior-Loken syndrome- (JN with ) AR WDR19 Disorders of tubular ion transport Adrenal hyperplasia, congenital (11β-OH deficiency) CYP11B1 AR Apparent mineralocorticoid excess, syndrome of HSD11B2 AR APRT deficiency (stones and ESRD) APRT AR BSND, CaSR, CLCNKA, CLCNKB, KCNJ1, MAGED2, CaSR (AD) SLC12A1 AR: all others Cystinosis CTNS AR Cystinuria SLC3A1, SLC34A1, SLC7A9 AD & AR Dent disease CLCN5, OCRL XLR Fanconi-Bickel syndrome SLC2A2 AR AR: ATP7B, CTNS, FAH, SLC34A1 Fanconi syndrome, generalized proximal defect ATP7B, CLCN5, CTNS, EHHADH, FAH, HNF4A, SLC34A1 AD: EHHADH, HNF4A XR: CLCN5 CLCNKB, SLC12A3 AR Glucosuria, renal SLC5A1, SLC5A2 AR & AD Hypoaldosteronism, congenital CYP11B2 AR AD: CNNM2, FXYD2 Hypomagnesemia , renal CLDN16, CLDN19, CNNM2, EGF, FXYD2, HNF1B, TRPM6 AR: CLDN16, CLDN19, TRPM6 Hyperaldosteronism, familial CACNA1D, CACNA1H, CYP11B1, KCNJ5 AD Hyperaldosteronism, glucocorticoid remediable CYP11B1-CYP11B2 fusion AD Hyperuricemia, pulmonary hypertension, renal failure, and SARS2 AR alkalosis syndrome (HUPRAS) Hypercalciuria ADCY10 AD Hyperoxaluria, primary AGXT, GRHPR, HOGA1 AR Hypertension with hyperkalemia (Gordon's syndrome) , AD: CUL3, KLHL3, WNK1, WNK4 CUL3, KLHL3, WNK1, WNK4 II AR: KLHL3 Hypocalcemia, autosomal dominant CASR AD AD: FGF23 Hypophosphatemic rickets DMP1, CLCN5, ENPP1, FGF23, PHEX, SLC34A3, VDR AR: SLC34A3, ENPP1,DMP1 XLR: CLCN5, PHEX AD: SLC2A9 Hypouricemia, renal SLC2A9, SLC22A12 AR: SLC22A12 Iowa Institute of Human Genetics KidneySeq™ v3 Gene List CLIA ID 16D2053873 CAP# 8864771

Disorders of tubular Ion transport continued Liddle syndrome (AD) (pseudoprimary hyperaldosteronism) SCNN1B, SCNN1G AD AD & AR: AQP2 Nephrogenic diabetes insipidus AQP2, AVPR2 XLR: AVPR2 Nephrogenic syndrome of inappropriate antidiuresis AVPR2 XLR Nephrolithiasis/osteoporosis, hypophosphatemic SLC9A3R1 AD AD: NR3C2 Pseudohypoaldosteronism I NR3C2, SCNN1A, SCNN1B, SCNN1G, AR: SCNN1A, SCNN1G Renal tubular acidosis, distal ATP6V0A4, ATP6V1B1, SLC4A1, AD & AR AD: EHHADH, HNF4A ATP7B, CLCN5, CTNS, EHHADH, FAH, HNF4A, Renal tubular acidosis, proximal AR: SLC34A1,SLC4A4 SLC34A1,SLC4A4 XR: CLCN5 AD: CUL3, KLHL3, NR3C2WNK1, CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, Renal tubular acidosis, type IV WNK4 WNK1, WNK4 AR: KLHL3, SCNN1A, SCNN1G Renal tubular acidosis, with CA2 AR Renal tubular disease, hypertension related NEDD4L SESAME syndrome / East syndrome KCNJ10 AR Glomerular diseases AR COL4A3, COL4A4 Alport syndrome COL4A3, COL4A4, COL4A5, COL4A6 AD: COL4A3 XLD: COL4A5 Alstrom syndrome ALMS1 AR Amyloidosis, hereditary APOA1, B2M, FGA, GSN, LYZ, NLRP3, TNFRSF1A, TTR AD Congenital lung disease, nephrotic syndrome, and mild ITGA3 AR epidermolysis bullosa Congenital nephrotic syndrome (Finnish type) NPHS1 AR COQ2 nephropathy COQ2 AR Denys-Drash syndrome; Frasier syndrome WT1 AD Diffuse mesangial sclerosis ARHGDIA, PLCE1, WT1 AR Epstein/Fechtner - renal disease with macrothrombocytopenia MYH9 AD Fabry disease GLA XL Familial Mediterranean Fever MEFV AD&AR ACTN4, ANLN, ARHGAP24, CD2AP, CFI, COL4A3, AD: All others Focal segmental glomerulosclerosis (FSGS) AD/XL COL4A4, COL4A5, E2F3, INF2, LMX1B, PAX2, TRPC6, WT1 XL: COL4A5 Focal segmental glomerulosclerosis (FSGS) AR APOL1, COQ6, CRB2, ITGB4, MYO1E, NPHP4, TTC21B AR ADCK4, ALG1, ARHGDIA, CUBN, DGKE, DHTKD1, DLC1, EMP2, FAT1, LAMB2, NPHS1, NPHS2, NUP107, NUP205, Focal segmental glomerulosclerosis (AR)/SRNS AR NUP93, PLCE1, PDSS2, PMM2, PTPRO, SCARB2, SGPL1, XPO5, ZMPSTE24 Galloway-Mowat syndrome WDR73 AR Glomerulopathy with fibronectin deposits FN1 AD Infantile sialic acid storage disease SLC17A5 AR Lipodystrophy, familial, partial LMNA AD Lipoprotein glomerulopathy APOE Muckle-Wells syndrome NLRP3 AD Nail patella syndrome LMX1B AD Nephropathy with pretibial epidermolysis bullosa and CD151 AR deafness Nephrotic syndrome - steroid sensitive PLCG2 Pierson syndrome - nephrotic syndrome with microcoria LAMB2 AR Thin basement membrane disease (benign familial hematuria) COL4A3, COL4A4 AD CAKUT Branchio-oto-renal syndrome EYA1, SIX1, SIX5 AD CAKUT with VACTERL TRAP1 AR CHARGE syndrome CHD7, SEMA3E AD Cogan oculomotor apraxia NPHP1 AR AGTR1, CHD1L, DLG1, DSTYK, EYA1, FOXP1, GATA3, AD: All others Common CAKUT GDNF, HNF1B, KIF12, PAX2, PBX1, RET, ROBO2, SALL1, AR: TRAP1 SIX2, SIX5, SLIT2, SRGAP1, TBX18, TRAP1 Fraser syndrome FRAS1, FREM1, FREM2, GREM1, GRIP1 AR Hypoparathyroidism, sensorineural deafness, GATA3 AD and renal dysplasia Iowa Institute of Human Genetics KidneySeq™ v3 Gene List CLIA ID 16D2053873 CAP# 8864771 BMP4, DACH1, DSTYK, FGF20, HNF1B, ITGA8, PAX2, AD: All others Isolated renal hypo-dysplasia RET, SALL1, SIX2 AR: DACH1, FGF20, ITGA8, Isolated renal hypoplasia: Potter syndrome (oligohydramnios) RET, UPK3 AR renal adysplasia Hypogonadotropic hypogonadism with or without anosmia XL: ANOS ANOS1, CHD7, FGFR1 (Kallmann syndrome) AD: CHD7, FGFR1 Mayer-Rokitansky-Küster-Hauser syndrome WNT4 AD Multicystic dysplastic kidney CHD1L, HNF1B, ROBO2, SALL1 AD Posterior urethral valves CHD1L, HNF1B, ROBO2, SALL1, SIX2 AD Renal-Coloboma syndrome PAX2 AR Renal cysts and diabetes syndrome HNF1B AD Renal tubular dysgenesis ACE, AGT, AGTR1, REN AR Townes-Brocks syndrome SALL1 AD Unilateral renal agenesis DSTYK, HNF1B, RET, SALL1 AD UPJ obstruction DSTYK, EYA1, HNF1B, RET, ROBO2, SALL1 AD UVJ obstruction CHD1L, PAX2, SIX5 AD DSTYK, EYA1, GATA3, HNF1B, RET, ROBO2, SALL1, Vesicoureteral reflux AD SOX17, TNXB, UPK3A Nephrolithiasis/Nephrocalcinosis APRT deficiency (stones and ESRD) APRT AR CaSR (AD) Bartter syndrome CaSR, KCNJ1, SLC12A1 AR: all others Cystinuria SLC3A1, SLC34A1, SLC7A9 AD & AR Dent disease CLCN5, OCRL XLR AR: ATP7B, CTNS, FAH, SLC34A1 Fanconi syndrome, generalized proximal defect ATP7B, CLCN5, CTNS, EHHADH, FAH, HNF4A, SLC34A1 AD: EHHADH, HNF4A XR: CLCN5 Hypomagnesemia with hypercalciuria CLDN16, CLDN19, AR: CLDN16, CLDN19, TRPM6 Hypercalcemia, infantile CYP24A1 AR Hypercalciuria ADCY10 AD Hyperoxaluria, primary AGXT, GRHPR, HOGA1 AR Hypocalcemia, autosomal dominant CASR AD AD: FGF23 Hypophosphatemic rickets DMP1, CLCN5, ENPP1, FGF23, PHEX, SLC34A3, VDR AR: SLC34A3, ENPP1,DMP1 XLR: CLCN5, PHEX AD: SLC2A9 Hypouricemia, renal SLC2A9, SLC22A12 AR: SLC22A12 Lesch-Nyhan syndrome HPRT1 XLR Nephrolithiasis/osteoporosis, hypophosphatemic SLC9A3R1 AD Renal tubular acidosis, distal ATP6V0A4, ATP6V1B1, SLC4A1, AD & AR AD: EHHADH, HNF4A ATP7B, CLCN5, CTNS, EHHADH, FAH, HNF4A, Renal tubular acidosis, proximal AR: SLC34A1,SLC4A4 SLC34A1,SLC4A4 XR: CLCN5 Xanthine oxidase deficiency XDH AR Other renal diseases not otherwise categorized Arthrogryposis, renal dysfunction VIPAS39, VPS33B AR Charcot-Marie Tooth disease (CMTDIE) INF2 AD CHARGE syndrome CHD7, SEMA3E AD Duane-radial ray syndrome (Okihiro syndrome) SALL4 AD Finlay-Marks syndrome KCTD1 AD Lesch-Nyhan syndrome HPRT1 XLR Hypercalcemia, infantile CYP24A1 AR Hyperuricemia, pulmonary hypertension, renal failure, and SARS2 AR alkalosis syndrome (HUPRAS) Mitochondrial cytopathies COQ2 AR Pallister-Hall syndrome GLI3 AD Rubinstein-Taybi syndrome CREBBP AD Schimke immuno-osseus dysplasia SMARCAL1 AR SERKAL syndrome – 46XX sex reversal with dysgenesis of WNT4 AR kidneys, adrenal and lungs SESAME syndrome / East syndrome KCNJ10 AR Simpson-Golabi-Behmel syndrome GPC3 XLR Smith-Lemli-Optiz syndrome DHCR7 AR Iowa Institute of Human Genetics KidneySeq™ v3 Gene List CLIA ID 16D2053873 CAP# 8864771

Tuberous sclerosis TSC1, TSC2 AD von Hippel-Landau syndrome – familial cancer syndrome VHL AD Williams syndrome 7q 11.23 AD Xanthine oxidase deficiency XDH AR

CPT Codes: • KidneySeq™: • Comprehensive testing: 81402, 81404, 81405, 81406, 81407, 81408, 81479 • Ciliopathies/tubulointerstitial diseases: 81404, 81405, 81406, 81407, 81408, 81479 • CAKUT: 81405, 81406, 81479 • Glomerular diseases: 81402, 81404, 81405, 81406, 81407, 81408, 81479 • Tubular Ion transport disorders: 81404, 81405, 81406, 81407, 81479 • APOL1 Genotype Testing: 81479 • Familial Testing: Contact Laboratory