Comprehensive Inherited Kidney Diseases Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13990 ACE 81479,81479 Order Options and Pricing
ACTN4 81406,81479
ADAMTS9 81479,81479
ADCY10 81479,81479
AGT 81479,81479
AGTR1 81479,81479
AGXT 81479,81479
AHI1 81407,81479
ALG1 81479,81479
ALMS1 81479,81479
ANKFY1 81479,81479
ANKS6 81479,81479
ANLN 81479,81479
ANOS1 81406,81479
APOA1 81479,81479
APOL1 81479,81479
APRT 81479,81479
AQP2 81404,81479
ARHGAP24 81479,81479
ARHGDIA 81479,81479
ARL13B 81479,81479
ARL6 81479,81479
ARMC9 81479,81479
ATP6V0A4 81479,81479
ATP6V1B1 81479,81479
ATP6V1C2 81479,81479
ATP7B 81479,81479
ATXN10 81479,81479
AVIL 81479,81479
AVPR2 81404,81479
B2M 81479,81479
B9D1 81479,81479
B9D2 81479,81479
BBIP1 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
BMP4 81479,81479
BMP7 81479,81479
BNC2 81479,81479
BSND 81479,81479
C2CD3 81479,81479
CA2 81479,81479
CACNA1D 81479,81479
CACNA1H 81479,81479
CASR 81405,81479
CC2D2A 81479,81479
CD151 81479,81479
CD2AP 81479,81479
CDC5L 81479,81479
CDK20 81479,81479
CEP104 81479,81479
CEP120 81479,81479
CEP164 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CEP83 81479,81479
CFAP410 81479,81479
CFAP418 81479,81479
CHD1L 81479,81479
CHD7 81407,81479
CLCN2 81479,81479
CLCN5 81479,81479
CLDN10 81479,81479
CLDN16 81479,81479
CLDN19 81479,81479
CNNM2 81479,81479
COL4A1 81408,81479
COL4A3 81408,81479
COL4A4 81407,81479
COL4A5 81408,81407
COL4A6 81479,81479
COQ2 81479,81479
COQ6 81479,81479
COQ8B 81479,81479
CPLANE1 81479,81479
CRB2 81479,81479
CSPP1 81479,81479
CTNS 81479,81479
CTU2 81479,81479
CUBN 81479,81479
CUL3 81479,81479
CYP11B1 81405,81479
CYP11B2 81479,81479
CYP24A1 81479,81479
CYP27B1 81479,81479
DAAM2 81479,81479
DCDC2 81479,81479
DGKE 81479,81479
DHCR7 81405,81479
DICER1 81479,81479
DLC1 81479,81479
DLG5 81479,81479
DMP1 81479,81479
DNAJB11 81479,81479
DSTYK 81479,81479
DYNC2H1 81479,81479
DYNC2I1 81479,81479
DYNC2I2 81479,81479
DYNC2LI1 81479,81479
DZIP1L 81479,81479
EGF 81479,81479
EHHADH 81479,81479
EMP2 81479,81479
ENPP1 81479,81479
EYA1 81406,81405
FAH 81406,81479
FAN1 81479,81479
FAT1 81479,81479
FAT4 81479,81479
FGA 81479,81479
FGF20 81479,81479
FGF23 81404,81479
FGFR1 81405,81479
FGFR2 81479,81479
FN1 81479,81479
FOXC1 81479,81479
FOXP1 81479,81479
FRAS1 81479,81479
FREM1 81479,81479
FREM2 81479,81479
FXYD2 81479,81479
GANAB 81479,81479
GAPVD1 81479,81479
GATA3 81479,81479
GATM 81479,81479
GLA 81405,81479
GLI2 81479,81479
GLI3 81479,81479
GLIS2 81479,81479
GON7 81479,81479
GPC3 81479,81479
GREB1L 81479,81479
GRHPR 81479,81479
GRIP1 81479,81479
GSN 81479,81479
HNF1B 81405,81404
HNF4A 81406,81479
HOGA1 81479,81479
HOXA13 81479,81479
HOXA4 81479,81479
HOXB6 81479,81479
HPRT1 81479,81479
HPSE2 81479,81479
HSD11B2 81404,81479
IFT122 81479,81479
IFT140 81479,81479
IFT172 81479,81479
IFT27 81479,81479
IFT43 81479,81479
IFT52 81479,81479
IFT74 81479,81479
IFT80 81479,81479
IFT81 81479,81479
INF2 81406,81479
INPP5E 81479,81479
INVS 81479,81479
IQCB1 81479,81479
ITGA3 81479,81479
ITGA8 81479,81479
ITGB4 81479,81479
ITSN1 81479,81479
ITSN2 81479,81479
JAG1 81407,81406
KANK1 81479,81479
KANK2 81479,81479
KANK4 81479,81479
KAT2B 81479,81479
KAT6B 81479,81479
KATNIP 81479,81479
KCNJ1 81404,81479
KCNJ10 81404,81479
KCNJ5 81479,81479
KCTD1 81479,81479
KIF14 81479,81479
KIF7 81479,81479
KIRREL1 81479,81479
KLHL3 81479,81479
KMT2D 81479,81479
LAGE3 81479,81479
LAMA5 81479,81479
LAMB2 81407,81479
LCAT 81479,81479
LIFR 81479,81479
LMX1B 81479,81479
LRP4 81479,81479
LRP5 81406,81479
LYZ 81479,81479
LZTFL1 81479,81479
MAFB 81479,81479
MAGED2 81479,81479
MAGI2 81479,81479
MAPKBP1 81479,81479
MKKS 81479,81479
MKS1 81479,81479
MUC1 81479,81479
MYH9 81479,81479
MYO1E 81479,81479
NEK1 81479,81479
NEK8 81479,81479
NEU1 81479,81479
NFKB2 81479,81479
NIPBL 81479,81479
NLRP3 81479,81479
NOS1AP 81479,81479
NOTCH2 81479,81479
NPHP1 81406,81405
NPHP3 81479,81479
NPHP4 81479,81479
NPHS1 81407,81479
NPHS2 81405,81479
NR3C2 81479,81479
NRIP1 81479,81479
NUP107 81479,81479
NUP133 81479,81479
NUP160 81479,81479
NUP205 81479,81479
NUP85 81479,81479
NUP93 81479,81479
OCRL 81479,81479
OFD1 81479,81479
OSGEP 81479,81479
PARN 81479,81479
PAX2 81406,81479
PBX1 81479,81479
PDSS2 81479,81479
PHEX 81406,81479
PKD1 81407,81479
PKD2 81406,81479
PKHD1 81408,81479
PLCE1 81407,81479
PMM2 81479,81479
PTPRO 81479,81479
REN 81479,81479
RET 81406,81479
ROBO1 81479,81479
ROBO2 81479,81479
RPGRIP1L 81479,81479
SALL1 81479,81479
SALL4 81479,81479
SARS2 81479,81479
SCARB2 81479,81479
SCNN1A 81406,81479
SCNN1B 81406,81479
SCNN1G 81406,81479
SDCCAG8 81479,81479
SEC61A1 81479,81479
SEMA3E 81479,81479
SGPL1 81479,81479
SIX1 81479,81479
SIX2 81479,81479
SIX5 81479,81479
SLC12A1 81407,81479
SLC12A3 81407,81479
SLC17A5 81479,81479
SLC22A12 81479,81479
SLC2A2 81479,81479
SLC2A9 81479,81479
SLC34A1 81479,81479
SLC34A3 81479,81479
SLC3A1 81479,81479
SLC41A1 81479,81479
SLC4A1 81479,81479
SLC4A4 81479,81479
SLC5A1 81479,81479
SLC5A2 81479,81479
SLC7A9 81479,81479
SLC9A3R1 81479,81479
SLIT2 81479,81479
SMARCAL1 81479,81479
SOX11 81479,81479
SOX17 81479,81479
SRGAP1 81479,81479
TBC1D1 81479,81479
TBC1D8B 81479,81479
TBX18 81479,81479
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TFAP2A 81479,81479
TMEM107 81479,81479
TMEM138 81479,81479
TMEM216 81479,81479
TMEM237 81479,81479
TMEM67 81407,81479
TNS2 81479,81479
TNXB 81479,81479
TP53RK 81479,81479
TPRKB 81479,81479
TRAP1 81479,81479
TRIM32 81479,81479
TRIM8 81479,81479
TRPC6 81406,81479
TRPM6 81479,81479
TSC1 81406,81405
TSC2 81407,81406
TTC21B 81479,81479
TTC8 81479,81479
TTR 81404,81479
UMOD 81406,81479
UPK3A 81479,81479
VDR 81479,81479
VHL 81479,81479
VIPAS39 81479,81479
VPS33B 81479,81479
VWA2 81479,81479
WDPCP 81479,81479
WDR19 81479,81479
WDR35 81479,81479
WDR4 81479,81479
WDR73 81479,81479
WNK1 81479,81479
WNK4 81479,81479
WNT4 81479,81479
WT1 81405,81479
XDH 81479,81479
XPNPEP3 81479,81479
XPO5 81479,81479
YRDC 81479,81479
ZMYM2 81479,81479
ZNF423 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13990Genes x (326)81479 81404, 81405, 81406, 81407, 81408, 81479 $1490 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Inherited kidney diseases encompass a clinically and genetically heterogeneous group of progressive conditions due to pathogenic variants in single genes that disturb renal growth, structure, and function (Devuyst et al. 2014. PubMed ID: 24856029; Hildebrandt. 2010. PubMed ID: 20382325). In addition to pediatric patients, inherited kidney diseases also have a high prevalence in adults, accounting for up to 37% of adults with renal diseases (Cocchi et al. 2020. PubMed ID: 32646915; Connaughton et al. 2019. PubMed ID: 30773290; Lata et al. 2018. PubMed ID: 29204651). With an overall prevalence of approximately 6-8 in 10,000 births in the USA and Europe, more than 160 different inherited kidney diseases have been identified to date. Among individuals who progress to renal-replacement therapy, nearly all children and at least 10% of adults are affected by an inherited kidney disease (Devuyst et al. 2014. PubMed ID: 24856029). Based on nephron segments and the function of the involved genes, these kidney diseases can be primarily classified into the following categories: congenital anomalies of the kidney and urinary tract (CAKUT), ciliopathies and tubulointerstitial diseases, glomerular diseases, renal tubular diseases and metabolic diseases, and nephrolithiasis. Inherited kidney disorders can have complications in other organs such as the eyes, liver, brain, bone, and skin. In addition, this panel also includes syndromic disorders that have renal involvement such as von Hippel-Lindau syndrome and Alagille syndrome.

Genetic testing for inherited kidney diseases in both pediatric and adult populations is critical for confirmation of clinical diagnosis, differential diagnosis, and personalized management and treatment; genetic testing has therefore been increasingly integrated into clinical practice (Lemaire and Parekh. 2017. PubMed ID: 29146703; Cocchi et al. 2020. PubMed ID: 32646915). 

Genetics

Inherited kidney diseases are clinically and genetically heterogeneous and may be transmitted in an autosomal dominant (including de novo), autosomal recessive or X-linked manner. Causative variants include missense, nonsense, frameshift, splicing, regulatory, and copy number alterations.

Inherited kidney diseases are caused by defects in genes encoding a broad range of proteins including channels, transporters, receptors, enzymes, transcription factors, and structural components. These proteins can also play an important role in extrarenal organs such as the eyes, liver, brain, bone, and skin (Devuyst et al. 2014. PubMed ID: 24856029).

This large panel essentially includes all the tests for inherited kidney diseases available in PreventionGenetics. See individual gene summaries for information on molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

To our knowledge, no overall clinical sensitivity has been reported in the literature for comprehensive inherited kidney diseases with testing greater than 300 genes. Due to the genetic heterogeneity of the disorders tested in this panel, the clinical sensitivity of this large panel is difficult to estimate and varies largely depending on phenotypes and the underlying etiology.

However, based on the subgroups of inherited kidney diseases mentioned in the clinical features section, sensitivity data is available for the majority of subpanels. Please see our individual subpanels for more information about clinical sensitivity. Cocchi et al. reviewed the literature and summarized diagnostic yield of inherited kidney diseases by phenotype and genetic test type (Cocchi et al. 2020. PubMed ID: 32646915).

Testing Strategy

This test is performed using next-generation sequencing (NGS) with additional Sanger sequencing as necessary.

This panel typically provides 98.3% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Some exons cannot be efficiently captured, and some genes cannot be accurately sequenced because of the presence of multiple copies (i.e. paralogous sequence) in the genome (including the following regions: ALG exon 12, NOTCH2 exons 1-4, the variable-number tandem repeat region in MUC1 and TNXB exons 32-44). Therefore, a small fraction of sequence variants relevant to the patient's health may not be detected. For the APOL1 gene, we only test the risk alleles G1 and G2.   

The report will not include all the observed rare variants due to the large number of genes included in this panel. Pathogenic, likely pathogenic, uncertain and risk variants that are considered to contribute to the patient's phenotype will be reported. A list of all rare variants included in this panel is available along with our interpretations upon request.

Reports will consist of two different sections:

  • Variants in genes known to be associated with the provided phenotype
  • Variants in genes possibly associated with the provided phenotype

Exome-wide CNV analysis is included at no additional charge as part of this test.  In addition to phenotypically-relevant CNVs, we will also report any rare deletions ≥ 250 kb in size and rare duplications ≥ 500 kb in size. In rare cases, sequence paralogy (e.g., pseudogenes, segmental duplications), sequence properties, deletion/duplication size, and inadequate coverage may impact our ability to identify and/or interpret a CNV. 

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test are patients with suspected inherited kidney diseases. This test especially aids in a differential diagnosis of similar phenotypes by analyzing multiple genes simultaneously.

Genes

Official Gene Symbol OMIM ID
ACE 106180
ACTN4 604638
ADAMTS9 605421
ADCY10 605205
AGT 106150
AGTR1 106165
AGXT 604285
AHI1 608894
ALG1 605907
ALMS1 606844
ANKFY1 607927
ANKS6 615370
ANLN 616027
ANOS1 300836
APOA1 107680
APOL1 603743
APRT 102600
AQP2 107777
ARHGAP24 610586
ARHGDIA 601925
ARL13B 608922
ARL6 608845
ARMC9 617612
ATP6V0A4 605239
ATP6V1B1 192132
ATP6V1C2 618070
ATP7B 606882
ATXN10 611150
AVIL 613397
AVPR2 300538
B2M 109700
B9D1 614144
B9D2 611951
BBIP1 613605
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BMP4 112262
BMP7 112267
BNC2 608669
BSND 606412
C2CD3 615944
CA2 611492
CACNA1D 114206
CACNA1H 607904
CASR 601199
CC2D2A 612013
CD151 602243
CD2AP 604241
CDC5L 602868
CDK20 610076
CEP104 616690
CEP120 613446
CEP164 614848
CEP290 610142
CEP41 610523
CEP83 615847
CFAP410 603191
CFAP418 614477
CHD1L 613039
CHD7 608892
CLCN2 600570
CLCN5 300008
CLDN10 617579
CLDN16 603959
CLDN19 610036
CNNM2 607803
COL4A1 120130
COL4A3 120070
COL4A4 120131
COL4A5 303630
COL4A6 303631
COQ2 609825
COQ6 614647
COQ8B 615567
CPLANE1 614571
CRB2 609720
CSPP1 611654
CTNS 606272
CTU2 617057
CUBN 602997
CUL3 603136
CYP11B1 610613
CYP11B2 124080
CYP24A1 126065
CYP27B1 609506
DAAM2 606627
DCDC2 605755
DGKE 601440
DHCR7 602858
DICER1 606241
DLC1 604258
DLG5 604090
DMP1 600980
DNAJB11 611341
DSTYK 612666
DYNC2H1 603297
DYNC2I1 615462
DYNC2I2 613363
DYNC2LI1 617083
DZIP1L 617570
EGF 131530
EHHADH 607037
EMP2 602334
ENPP1 173335
EYA1 601653
FAH 613871
FAN1 613534
FAT1 600976
FAT4 612411
FGA 134820
FGF20 605558
FGF23 605380
FGFR1 136350
FGFR2 176943
FN1 135600
FOXC1 601090
FOXP1 605515
FRAS1 607830
FREM1 608944
FREM2 608945
FXYD2 601814
GANAB 104160
GAPVD1 611714
GATA3 131320
GATM 602360
GLA 300644
GLI2 165230
GLI3 165240
GLIS2 608539
GON7 617436
GPC3 300037
GREB1L 617782
GRHPR 604296
GRIP1 604597
GSN 137350
HNF1B 189907
HNF4A 600281
HOGA1 613597
HOXA13 142959
HOXA4 142953
HOXB6 142961
HPRT1 308000
HPSE2 613469
HSD11B2 614232
IFT122 606045
IFT140 614620
IFT172 607386
IFT27 615870
IFT43 614068
IFT52 617094
IFT74 608040
IFT80 611177
IFT81 605489
INF2 610982
INPP5E 613037
INVS 243305
IQCB1 609237
ITGA3 605025
ITGA8 604063
ITGB4 147557
ITSN1 602442
ITSN2 604464
JAG1 601920
KANK1 607704
KANK2 614610
KANK4 614612
KAT2B 602303
KAT6B 605880
KATNIP 616650
KCNJ1 600359
KCNJ10 602208
KCNJ5 600734
KCTD1 613420
KIF14 611279
KIF7 611254
KIRREL1 607428
KLHL3 605775
KMT2D 602113
LAGE3 300060
LAMA5 601033
LAMB2 150325
LCAT 606967
LIFR 151443
LMX1B 602575
LRP4 604270
LRP5 603506
LYZ 153450
LZTFL1 606568
MAFB 608968
MAGED2 300470
MAGI2 606382
MAPKBP1 616786
MKKS 604896
MKS1 609883
MUC1 158340
MYH9 160775
MYO1E 601479
NEK1 604588
NEK8 609799
NEU1 608272
NFKB2 164012
NIPBL 608667
NLRP3 606416
NOS1AP 605551
NOTCH2 600275
NPHP1 607100
NPHP3 608002
NPHP4 607215
NPHS1 602716
NPHS2 604766
NR3C2 600983
NRIP1 602490
NUP107 607617
NUP133 607613
NUP160 607614
NUP205 614352
NUP85 170285
NUP93 614351
OCRL 300535
OFD1 300170
OSGEP 610107
PARN 604212
PAX2 167409
PBX1 176310
PDSS2 610564
PHEX 300550
PKD1 601313
PKD2 173910
PKHD1 606702
PLCE1 608414
PMM2 601785
PTPRO 600579
REN 179820
RET 164761
ROBO1 602430
ROBO2 602431
RPGRIP1L 610937
SALL1 602218
SALL4 607343
SARS2 612804
SCARB2 602257
SCNN1A 600228
SCNN1B 600760
SCNN1G 600761
SDCCAG8 613524
SEC61A1 609213
SEMA3E 608166
SGPL1 603729
SIX1 601205
SIX2 604994
SIX5 600963
SLC12A1 600839
SLC12A3 600968
SLC17A5 604322
SLC22A12 607096
SLC2A2 138160
SLC2A9 606142
SLC34A1 182309
SLC34A3 609826
SLC3A1 104614
SLC41A1 610801
SLC4A1 109270
SLC4A4 603345
SLC5A1 182380
SLC5A2 182381
SLC7A9 604144
SLC9A3R1 604990
SLIT2 603746
SMARCAL1 606622
SOX11 600898
SOX17 610928
SRGAP1 606523
TBC1D1 609850
TBC1D8B 301027
TBX18 604613
TCTN1 609863
TCTN2 613846
TCTN3 613847
TFAP2A 107580
TMEM107 616183
TMEM138 614459
TMEM216 613277
TMEM237 614423
TMEM67 609884
TNS2 607717
TNXB 600985
TP53RK 608679
TPRKB 608680
TRAP1 606219
TRIM32 602290
TRIM8 606125
TRPC6 603652
TRPM6 607009
TSC1 605284
TSC2 191092
TTC21B 612014
TTC8 608132
TTR 176300
UMOD 191845
UPK3A 611559
VDR 601769
VHL 608537
VIPAS39 613401
VPS33B 608552
VWA2 618281
WDPCP 613580
WDR19 608151
WDR35 613602
WDR4 605924
WDR73 616144
WNK1 605232
WNK4 601844
WNT4 603490
WT1 607102
XDH 607633
XPNPEP3 613553
XPO5 607845
YRDC 612276
ZMYM2 602221
ZNF423 604557
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
18 Hydroxylase Deficiency AR 203400
Acrocallosal Syndrome, Schinzel Type AR 200990
Adenine Phosphoribosyltransferase Deficiency AR 614723
Adolescent Nephronophthisis AR 604387
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency AR 202010
Afibrinogenemia, congenital AR 202400
AGAT Deficiency AR 612718
Al-Gazali-Bakalinova syndrome AR 607131
Alagille Syndrome 1 AD 118450
Alagille Syndrome 2 AD 610205
Alport Syndrome, Autosomal Dominant AD 104200
Alport Syndrome, Autosomal Recessive AR 203780
Alport Syndrome, X-Linked Recessive XL 301050
Alstrom Syndrome AR 203800
Amyloidogenic Transthyretin Amyloidosis AD 105210
Amyloidosis, Finnish Type AD 105120
Amyotrophic lateral sclerosis, susceptibility to, 24 AD 617892
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
Antley-Bixler Syndrome AD 207410
Apert Syndrome AD 101200
ApoA-I and apoC-III deficiency, combined 618463
Apparent Mineralocorticoid Excess AR 218030
Arterial Calcification Of Infancy AR 208000
Arthrogryposis Renal Dysfunction Cholestasis Syndrome AR 208085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 AR 613404
Autosomal Recessive Hypophosphatemic Bone Disease AR 241530
Axenfeld-Rieger Syndrome Type 3 AD 602482
Barakat Syndrome AD 146255
Bardet-Biedl Syndrome 1 AR 209900
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 AR 615991
Bardet-Biedl Syndrome 15 AR 615992
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 AR 615994
Bardet-Biedl Syndrome 18 AR 615995
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 2 AR 615981
Bardet-Biedl Syndrome 20 AR 617119
Bardet-Biedl Syndrome 21 AR 617406
Bardet-Biedl Syndrome 3 AR 600151
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 6 AR 605231
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 8 AR 615985
Bardet-Biedl Syndrome 9 AR 615986
Bartter Syndrome Antenatal Type 1 AR 601678
Bartter Syndrome Antenatal Type 2 AR 241200
Bartter Syndrome Type 4 AR 602522
Bartter syndrome, type 5, antenatal, transient XL 300971
Benign Familial Hematuria AD 141200
Bent bone dysplasia syndrome AD 614592
Bifid Nose With Or Without Anorectal And Renal Anomalies 608980
Blood Group--Diego System 110500
Blood Group--Froese 601551
Blood Group--Swann System 601550
Blood Group--Waldner Type 112010
Blood Group--Wright Antigen 112050
Bone Mineral Density Quantitative Trait Locus 1 AD 601884
Branchiooculofacial Syndrome AD 113620
Branchiootic syndrome 1 AD 602588
Branchiootic Syndrome 3 AD 608389
Branchiootorenal Syndrome 1, with or without Cataracts AD 113650
Branchiootorenal Syndrome 2 610896
Bronchiectasis AD 211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2 AD 613021
Bronchiectasis With Or Without Elevated Sweat Chloride 3 AD 613071
Carpal Tunnel Syndrome AD 115430
Cerebral Palsy, Spastic Quadriplegic, 2 612900
Charcot-Marie-Tooth Disease, Dominant Intermediate E AD 614455
CHARGE Association AD 214800
Chronic Infantile Neurological, Cutaneous And Articular Syndrome AD 607115
COACH Syndrome AR 216360
COACH syndrome 2 619111
COACH syndrome 3 619113
Coenzyme Q10 Deficiency AR 607426
Coenzyme Q10 deficiency, primary, 3 AR 614652
Coenzyme Q10 deficiency, primary, 6 AR 614650
Cole Disease AD 615522
Cone-rod dystrophy 16 AR 614500
Congenital Anomalies of Kidney and Urinary Tract 2 AD 143400
Congenital anomalies of kidney and urinary tract 3 AD 618270
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay AD 617641
Congenital Anomalies of Kidney and Urinary Tract, Susceptibility to AD 610805
Congenital Central Hypoventilation syndrome AD 209880
Congenital Disorder Of Glycosylation Type 1A AR 212065
Congenital Disorder Of Glycosylation Type 1K AR 608540
Congenital Glucose-Galactose Malabsorption AR 606824
Congenital heart defects, hamartomas of tongue, and polysyndactyly AR 217085
Cornelia de Lange syndrome 1 AD 122470
Corticosterone Methyloxidase Type II Deficiency AR 610600
Cranioectodermal Dysplasia AR 218330
Cranioectodermal Dysplasia 2 AR 613610
Cranioectodermal Dysplasia 3 AR 614099
Cranioectodermal Dysplasia 4 AR 614378
Crouzon Syndrome AD 123500
Cryohydrocytosis AD 185020
Cryptophthalmos, unilateral or bilateral, isolated AR 123570
Culler-Jones Syndrome AD 615849
Cutis Gyrata Syndrome Of Beare And Stevenson AD 123790
Cystinosis AR 219800
Cystinosis, Ocular Nonnephropathic AR 219750
Cystinuria AD 220100
Deafness, Autosomal Dominant 17 AD 603622
Deafness, Autosomal Dominant 23 AD 605192
Deafness, autosomal dominant 34, with or without inflammation AD 617772
Deafness, autosomal recessive 66 AR 610212
Deafness, congenital heart defects, and posterior embryotoxon 617992
Deafness, X-linked 6 XL 300914
Dent Disease 1 XL 300009
Dent Disease 2 XL 300555
Diabetes Insipidus, Nephrogenic, Autosomal AD 125800
Diabetes Insipidus, Nephrogenic, X-Linked XL 304800
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Drash Syndrome AD 194080
Duane retraction syndrome 3 AD 617041
Duane-Radial Ray Syndrome AD 607323
Dysfibrinogenemia, congenital 616004
Dyskeratosis Congenita, Autosomal Recessive 6 AR 616353
Dystransthyretinemic Euthyroidal Hyperthyroxinemia AD 145680
Encephalocraniocutaneous lipomatosis 613001
Enlarged Vestibular Aqueduct Syndrome AR 600791
Epidermolysis Bullosa Simplex, Cockayne-Touraine Type AD 131800
Epidermolysis Bullosa With Pyloric Atresia AR 226730
Epilepsy, Childhood Absence 6 611942
Epilepsy, Idiopathic Generalized 8 612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 AD 607628
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure AR 254900
Erythrocytosis, Familial, 2 AR 263400
Essential Hypertension MF 145500
Exudative Vitreoretinopathy 4 AD 601813
Fabry's Disease XL 301500
Fallot Tetralogy AD 187500
Familial Amyloid Nephropathy With Urticaria And Deafness AD 191900
Familial Benign Hypercalcemia AD 145980
Familial Cold Urticaria AD 120100
Familial Colorectal Cancer 114500
Familial Hypokalemia-Hypomagnesemia AR 263800
Familial Juvenile Hyperuricemic Nephropathy AD 162000
Familial Medullary Thyroid Carcinoma AD 155240
Familial Renal Glucosuria AD 233100
Familial Renal Hypouricemia AR 220150
Familial Visceral Amyloidosis, Ostertag Type AD 105200
Fanconi renotubular syndrome 1 AD 134600
Fanconi Renotubular Syndrome 2 AR 613388
Fanconi renotubular syndrome 3 AD 615605
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young AD 616026
Fanconi-Bickel Syndrome AR 227810
Finnish Congenital Nephrotic Syndrome AR 256300
Fish-Eye Disease AR 136120
Focal Cortical Dysplasia Of Taylor 607341
Focal Segmental Glomerulosclerosis 1 AD 603278
Focal segmental glomerulosclerosis 10 AR 256020
Focal Segmental Glomerulosclerosis 2 AD 603965
Focal Segmental Glomerulosclerosis 3, Susceptibility To 607832
Focal Segmental Glomerulosclerosis 4, Susceptibility To 612551
Focal Segmental Glomerulosclerosis 5 613237
Focal Segmental Glomerulosclerosis 6 AR 614131
Focal Segmental Glomerulosclerosis 8 AD 616032
Focal Segmental Glomerulosclerosis 9 AR 616220
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Fraser Syndrome 3 AR 617667
Frasier Syndrome AD 136680
Galloway-Mowat Syndrome AR 251300
Galloway-Mowat Syndrome 2, X-linked XL 301006
Galloway-Mowat Syndrome 3 AR 617729
Galloway-Mowat Syndrome 4 AR 617730
Galloway-Mowat Syndrome 5 AR 617731
Galloway-Mowat syndrome 6 AR 618347
Galloway-Mowat syndrome 7 AR 618348
Galloway-Mowat syndrome 8 AR 618349
Genitopatellar Syndrome AD 606170
Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria 609886
Glomerulopathy With Fibronectin Deposits 2 AD 601894
Glomerulosclerosis, Focal Segmental, 7 AD 616002
GLOW syndrome, somatic mosaic 618272
Glucocorticoid-Remediable Aldosteronism AD 103900
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors AD 138800
Gout, HPRT-Related XL 300323
Greig Cephalopolysyndactyly Syndrome AD 175700
Hajdu-Cheney Syndrome AD 102500
Hand Foot Uterus Syndrome AD 140000
Hartsfield syndrome AD 615465
HELIX syndrome AR 617671
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 AR 616006
Hirschsprung Disease 1 AD 142623
Holoprosencephaly 9 AD 610829
Hydrolethalus Syndrome 2 AR 614120
Hyperaldosteronism, familial, type II AD 605635
Hyperaldosteronism, Familial, Type III AD 613677
Hyperaldosteronism, Familial, Type IV AD 617027
Hypercalcemia, infantile, 2 AR 616963
Hypercalciuria, Absorptive, 2 AD 143870
Hyperparathyroidism, Neonatal Severe Primary AD 239200
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 605115
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis AR 613845
Hyperuricemic Nephropathy, Familial Juvenile, 2 AD 613092
Hyperuricemic Nephropathy, Familial Juvenile, 4 AD 617056
Hypocalcemia, autosomal dominant AD 601198
Hypomagnesemia 1, Intestinal AR 602014
Hypomagnesemia 2, Renal AD 154020
Hypomagnesemia 4, Renal 611718
Hypomagnesemia 5, Renal, With Ocular Involvement AR 248190
Hypomagnesemia 6, Renal AD 613882
Hypomagnesemia, seizures, and mental retardation AD 616418
Hypophosphatemic Rickets, Autosomal Dominant AD 193100
Hypophosphatemic Rickets, Autosomal Recessive, 2 AR 613312
Hypophosphatemic Rickets, X-Linked Dominant XL 307800
Hypophosphatemic Rickets, X-Linked Recessive XL 300554
Hypophosphatemic Vitamin D Refractory Rickets AR 241520
Hypoproteinemia, Hypercatabolic AR 241600
Idiopathic Hypercalcemia Of Infancy AR 143880
Immunodeficiency, common variable, 10 AD 615577
Infantile Nephronophthisis AR 602088
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital AR 614748
Iridogoniodysgenesis Type1 AD 601631
Ivic Syndrome AD 147750
Jackson-Weiss Syndrome AD 123150
Joubert Syndrome AR 614615
Joubert Syndrome 1 AR 213300
Joubert Syndrome 10 XL 300804
Joubert Syndrome 13 AR 614173
Joubert syndrome 14 AR 614424
Joubert syndrome 15 AR 614464
Joubert syndrome 16 AR 614465
Joubert syndrome 18 AR 614815
Joubert syndrome 19 AD 614844
Joubert Syndrome 2 AR 608091
Joubert Syndrome 21 AR 615636
Joubert Syndrome 24 AR 616654
Joubert Syndrome 25 AR 616781
Joubert Syndrome 27 AR 617120
Joubert Syndrome 28 AR 617121
Joubert Syndrome 3 AR 608629
Joubert Syndrome 30 AR 617622
Joubert Syndrome 31 AR 617761
Joubert Syndrome 4 AR 609583
Joubert Syndrome 5 AR 610188
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 AR 612291
Joubert Syndrome 9 AR 612285
Juvenile Nephropathic Cystinosis AR 219900
Kabuki Syndrome 1 AD 147920
Kallmann Syndrome 1 XL 308700
Kallmann Syndrome 2 AD 147950
Kallmann Syndrome 5 AD 612370
Karyomegalic Tubulointerstitial Nephritis AR 614817
Keratoendothelitis fugax hereditaria AD 148200
Lacrimoauriculodentodigital Syndrome AD 149730
Leber Congenital Amaurosis 10 611755
Lesch-Lyhan Syndrome XL 300322
Leukoencephalopathy with Ataxia AR 615651
Liddle Syndrome AD 177200
Liddle syndrome 2 AD 618114
Liddle syndrome 3 AD 618126
Limb-Girdle Muscular Dystrophy, Type 2H AR 254110
Long QT Syndrome 13 AD 613485
Lowe Syndrome XL 309000
Lower urinary tract obstruction, congenital AD 618612
Lymphangioleiomyomatosis 606690
Malaria, Susceptibility To Malaria, Resistance To, Included 611162
Malignant Mesothelioma 156240
Manitoba Oculotrichoanal Syndrome AR 248450
Maturity-Onset Diabetes Of The Young, Type 1 AD 125850
Maturity-Onset Diabetes Of The Young, Type 5 AD 137920
May-Hegglin Anomaly AD 155100
Mckusick Kaufman Syndrome AR 236700
Meacham Syndrome 608978
Meckel Syndrome 1 AR 249000
Meckel Syndrome 10 AR 614175
Meckel Syndrome 12 AR 616258
Meckel Syndrome 13 AR 617562
Meckel Syndrome 2 AR 603194
Meckel Syndrome 3 AR 607361
Meckel Syndrome 4 AR 611134
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 AR 612284
Meckel Syndrome 7 AR 267010
Meckel Syndrome 8 AR 613885
Meckel Syndrome 9 AR 614209
Medullary Cystic Kidney Disease 1 AD 174000
Medullary Cystic Kidney Disease 2 603860
Megaloblastic Anemia Due To Inborn Errors Of Metabolism AR 261100
Mental Retardation With Language Impairment And Autistic Features AD 613670
Mental Retardation, Autosomal Dominant, 27 AD 615866
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant AD 618564
Microcephaly 20, primary, autosomal recessive AR 617914
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome AR 618142
Microcephaly, growth deficiency, seizures, and brain malformations AR 618346
Microphthalmia Syndromic 6 AD 607932
Microvascular Complications Of Diabetes 3 612624
MORM Syndrome AR 610156
Mullerian Aplasia And Hyperandrogenism AD 158330
Multicentric carpotarsal osteolysis syndrome AD 166300
Multiple Endocrine Neoplasia, Type 2A AD 171400
Multiple Endocrine Neoplasia, Type 2B AD 162300
Multiple system atrophy, susceptibility to AD 146500
Myasthenic Syndrome, Congenital, 17 AR 616304
Nail-Patella Syndrome AD 161200
Neoplasm Of Stomach 613659
Nephrogenic Syndrome Of Inappropriate Antidiuresis XL 300539
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 AD 612286
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 AD 612287
Nephronophthisis AR 256100
Nephronophthisis 11 AR 613550
Nephronophthisis 12 AD 613820
Nephronophthisis 13 AR 614377
Nephronophthisis 14 AD 614844
Nephronophthisis 15 AR 614845
Nephronophthisis 16 AR 615382
Nephronophthisis 18 AR 615862
Nephronophthisis 19 AR 616217
Nephronophthisis 20 AR 617271
Nephronophthisis 4 AR 606966
Nephronophthisis 7 611498
Nephronophthisis 9 613824
Nephronophthisis-Like Nephropathy 1 AR 613159
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness 609057
Nephrotic Syndrome, Idiopathic, Steroid-Resistant AR 600995
Nephrotic Syndrome, Type 10 AR 615861
Nephrotic Syndrome, Type 11 AR 616730
Nephrotic Syndrome, Type 12 AR 616892
Nephrotic Syndrome, Type 13 AR 616893
Nephrotic Syndrome, Type 14 AR 617575
Nephrotic Syndrome, Type 15 AR 617609
Nephrotic syndrome, type 16 AR 617783
Nephrotic syndrome, type 17 AR 618176
Nephrotic syndrome, type 18 AR 618177
Nephrotic syndrome, type 19 AR 618178
Nephrotic syndrome, type 20 XL 301028
Nephrotic syndrome, type 21 AR 618594
Nephrotic Syndrome, Type 3 AR 610725
Nephrotic syndrome, type 4 AD 256370
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities 614199
Nephrotic Syndrome, Type 6 AR 614196
Nephrotic Syndrome, Type 7 AR 615008
Nephrotic Syndrome, Type 8 AR 615244
Nephrotic syndrome, type 9 AR 615573
Neuropathy, Hereditary Sensory And Autonomic, Type IIA AR 201300
Non-Herlitz Junctional Epidermolysis Bullosa AR 226650
Norum Disease AR 245900
Obesity AD 601665
Oral-Facial-Digital Syndrome XL 311200
Orofacial Cleft 11 600625
Orofaciodigital Syndrome IV AR 258860
Orofaciodigital syndrome VI AR 277170
Orofaciodigital Syndrome XIV AR 615948
Orofaciodigital Syndrome XVI AR 617563
Osteoglophonic Dysplasia AD 166250
Osteopetrosis Autosomal Dominant Type 1 AD 607634
Osteopetrosis With Renal Tubular Acidosis AR 259730
Osteoporosis AD 166710
Osteoporosis With Pseudoglioma AR 259770
Otofaciocervical Syndrome AD 166780
Ovalocytosis, SA type AD 166900
Ovarian dysgenesis 6 AR 618078
Pallister-Hall Syndrome AD 146510
Palmoplantar Keratoderma and Woolly Hair AR 616099
Papillorenal Syndrome AD 120330
Pfeiffer Syndrome AD 101600
Pheochromocytoma AD 171300
Pierson Syndrome AR 609049
Pleuropulmonary Blastoma AD 601200
Polycyctic Kidney Disease 3 AD 600666
Polycystic Kidney Disease 1 AD 173900
Polycystic Kidney Disease 2 AD 613095
Polycystic Kidney Disease 5 AR 617610
Polycystic Kidney Disease 6 with or without Polycystic Liver Disease AD 618061
Polycystic Kidney Disease, Infantile Type AR 263200
Polycystic Liver Disease 4 with or without Kidney Cysts AD 617875
Polydactyly Preaxial Type 4 AD 174700
Polydactyly, Postaxial, Type A1 AD 174200
Porencephaly 1 AD 175780
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias AD 176305
Primary Aldosteronism, Seizures, and Neurologic Abnormalities AD 615474
Primary Hyperoxaluria, Type I AR 259900
Primary Hyperoxaluria, Type II AR 260000
Primary Hyperoxaluria, Type III AR 613616
Primary Hypomagnesemia AR 248250
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis XL 308990
Pseudohypoaldosteronism Type 1 Autosomal Dominant AD 177735
Pseudohypoaldosteronism Type 1 Autosomal Recessive AR 264350
Pseudohypoaldosteronism, type IIB AD 614491
Pseudohypoaldosteronism, type IIC AD 614492
Pseudohypoaldosteronism, type IID AD 614495
Pseudohypoaldosteronism, type IIE AD 614496
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 AD 616371
Raph Blood Group System 179620
Renal Adysplasia AR 191830
Renal Cell Carcinoma, Nonpapillary 144700
Renal Dysplasia And Retinal Aplasia AR 266900
Renal Hypodysplasia/Aplasia 2 AR 615721
Renal Hypodysplasia/Aplasia 3 AD 617805
Renal Hypouricemia 2 AD 612076
Renal Tubular Acidosis With Progressive Nerve Deafness AR 267300
Renal Tubular Acidosis, Distal, Autosomal Dominant AD 179800
Renal Tubular Acidosis, Distal, Autosomal Recessive AR 602722
Renal Tubular Acidosis, Distal, With Hemolytic Anemia AR 611590
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation AR 604278
Renal Tubular Dysgenesis AR 267430
Renal-Hepatic-Pancreatic Dysplasia AR 208540
Renal-hepatic-pancreatic dysplasia 2 AR 615415
Retinal arteries, tortuosity of AD 180000
Retinal Dystrophy with Macular Staphyloma AR 617547
Retinitis Pigmentosa 23 XL 300424
Retinitis Pigmentosa 51 AR 613464
Retinitis Pigmentosa 55 613575
Retinitis Pigmentosa 71 AR 616394
Retinitis Pigmentosa 74 AR 616562
Retinitis pigmentosa 80 AR 617781
Retinitis Pigmentosa 81 AR 617871
Rhabdomyosarcoma, embryonal, 2 180295
RHYNS syndrome AR 602152
Saethre-Chotzen Syndrome AD 101400
Salla Disease AR 604369
Scalp-ear-nipple syndrome AD 181270
Scaphocephaly, Maxillary Retrusion, And Mental Retardation 609579
Schimke Immunoosseous Dysplasia AR 242900
Sclerosing cholangitis, neonatal AR 617394
Sclerosteosis 2 AD 614305
Senior-Loken Syndrome 4 AR 606996
Senior-Loken Syndrome 5 AR 609254
Senior-Loken Syndrome 6 AR 610189
Senior-Loken Syndrome 7 613615
Senior-Loken Syndrome 8 AR 616307
Serkal Syndrome AR 611812
SeSAME Syndrome AR 612780
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly AR 615630
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly AR 616300
Short-rib thoracic dysplasia 15 with polydactyly AR 617088
Short-rib thoracic dysplasia 16 with or without polydactyly AR 617102
Short-rib thoracic dysplasia 18 with polydactyly AR 617866
Short-rib thoracic dysplasia 19 with or without polydactyly AR 617895
Short-Rib Thoracic Dysplasia 2 with or without Polydactyly AR 611263
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly AR 613091
Short-Rib Thoracic Dysplasia 4 with or without Polydactyly AR 613819
Short-Rib Thoracic Dysplasia 5 with or without Polydactyly AR 614376
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly AR 263520
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly AR 614091
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly AR 266920
Sialic Acid Storage Disease, Severe Infantile Type AR 269920
Sialidosis, Type II AR 256550
Simpson-Golabi-Behmel Syndrome XL 312870
Simpson-Golabi-Behmel Syndrome, Type 2 XL 300209
Sinoatrial node dysfunction and deafness AR 614896
Smith-Lemli-Opitz Syndrome AR 270400
Spastic Paraplegia 23 AR 270750
Spherocytosis, Type 4 AD 612653
Spinocerebellar Ataxia 10 AD 603516
Spondylometaphyseal dysplasia, axial AR 602271
Spondylometaphyseal dysplasia, corner fracture type AD 184255
Stroke, hemorrhagic 614519
Stuve-Wiedemann Syndrome AR 601559
Syndactyly Cenani Lenz Type AR 212780
Thyroid Cancer, Follicular 188470
Townes-Brocks Syndrome AD 107480
Trigonocephaly 2 AD 614485
Trigonocephaly, Nonsyndromic AD 190440
Tuberous Sclerosis 1 AD 191100
Tuberous Sclerosis 2 AD 613254
Tumoral calcinosis, hyperphosphatemic, familial, 2 AR 617993
Tyrosinemia Type I AR 276700
Urofacial Syndrome 1 AR 236730
Van Buchem Disease Type 2 AD 607636
Van Maldergem Syndrome 2 AR 615546
Ventriculomegaly with Cystic Kidney Disease AR 219730
Vesicoureteral Reflux 2 AD 610878
Vesicoureteral Reflux 3 AD 613674
Vesicoureteral Reflux 8 AD 615963
Vitamin D-Dependent Rickets, Type 1 AR 264700
Vitamin D-Dependent Rickets, Type 2 AR 277440
Von Hippel-Lindau Syndrome AD 193300
Wilms' Tumor 194070
Wilson's Disease AR 277900
Worth Disease AD 144750
X-Linked Recessive Nephrolithiasis With Renal Failure XL 310468
Xanthinuria, Type I AR 278300
Young Simpson Syndrome AD 603736
[Proteinuria, chronic benign] AR 618884

Related Tests

Name
PGxome®
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel
Nephrolithiasis and Nephrocalcinosis Panel
Nephronophthisis and Senior-Loken Syndrome Panel
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel

Citations

  • Cocchi et al. 2020. PubMed ID: 32646915
  • Connaughton et al. 2019. PubMed ID: 30773290
  • Devuyst et al. 2014. PubMed ID: 24856029
  • Hildebrandt. 2010. PubMed ID: 20382325
  • Lata et al. 2018. PubMed ID: 29204651
  • Lemaire and Parekh. 2017. PubMed ID: 29146703

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