Polymalformative syndromes associated with kidney involvement [265 genes]

This panel includes syndromic diseases with pediatric onset, multisystem manifestations, and genitourinary system alterations, such as kidney malformations, renal hypoplasia/aplasia, hydronephrosis, vesico-ureteral reflux,
duplicated collecting system, renal cysts, nephronophthisis, nephrolithiasis, nephrotic syndrome, and those that can lead to kidney failure. Among the phenotypes included in this group of diseases, it is worth noting the following syndromes:
Vesico-ureteral reflux, Van Maldergem, Townes-Brocks, Simpson-Golabi-Behmel, short-rib thoracic dysplasia, Senior- Løken, renal tubular dysgenesis, renal hypodysplasia/aplasia, Peutz-Jeghers, Pallister-Hall, otofaciocervical, Meckel,
LADD, Joubert, Galloway-Mowat, Fraser, Cornelia de Lange, CHARGE, branchio-oculo-facial, Beckwith-Wiedemann, Alagille, Meier-Gorlin, Bardet-Biedl.

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Polymalformative syndromes associated with kidney involvement

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110431

Polymalformative syndromes associated with kidney involvement: View panel
  • ACE
  • ACTB
  • ACTG1
  • AGT
  • AGTR1
  • AHI1
  • AMER1
  • ANOS1
  • ARL3
  • ARL6
  • ATN1
  • B3GLCT
  • B9D1
  • B9D2
  • BBS1
  • BBS10
  • BBS12
  • BBS2
  • BBS4
  • BBS5
  • BBS7
  • BBS9
  • BMP2
  • BMP4
  • BMPER
  • BNC2
  • BSCL2
  • C5orf42
  • C8orf37
  • CC2D2A
  • CCBE1
  • CCDC28B
  • CCL2
  • CCNQ
  • CD96
  • CDC42
  • CDC5L
  • CDK10
  • CDKN1C
  • CENPF
  • CEP104
  • CEP120
  • CEP290
  • CEP41
  • CEP55
  • CHD1L
  • CHD7
  • CHRM3
  • CISD2
  • CIT
  • CLCN7
  • CRKL
  • CSPP1
  • CTU2
  • DACH1
  • DACT1
  • DCHS1
  • DDX59
  • DHCR7
  • DSTYK
  • DVL1
  • DVL3
  • DYNC2H1
  • DYNC2LI1
  • EP300
  • ESCO2
  • ETFA
  • ETFB
  • ETFDH
  • ETV4
  • EXOC8
  • EYA1
  • FANCA
  • FANCB
  • FANCC
  • FANCD2
  • FANCE
  • FANCF
  • FANCI
  • FAT4
  • FGF10
  • FGF20
  • FGFR2
  • FGFR3
  • FLCN
  • FLNA
  • FMN1
  • FOXP1
  • FRAS1
  • FREM1
  • FREM2
  • FUZ
  • GATA3
  • GDF11
  • GEMIN4
  • GLI3
  • GLIS3
  • GPC3
  • GREB1L
  • GRIP1
  • H19
  • HAAO
  • HES7
  • HNF1B
  • HPSE2
  • HSD17B4
  • HSPA9
  • IFT122
  • IFT140
  • IFT172
  • IFT27
  • IFT43
  • IFT46
  • IFT52
  • IFT74
  • IFT80
  • IFT81
  • INPP5E
  • INTU
  • IQCB1
  • ITGA8
  • JAG1
  • JAM3
  • KAT6B
  • KCTD1
  • KIAA0586
  • KIAA0753
  • KIF14
  • KIF7
  • KMT2D
  • LAGE3
  • LMX1B
  • LRIG2
  • LRP2
  • LRP4
  • LZTFL1
  • MAD2L2
  • MBTPS2
  • MCM5
  • MKKS
  • MKS1
  • MNX1
  • MUC1
  • MYCN
  • NAA10
  • NCAPG2
  • NEK1
  • NFIA
  • NIPBL
  • NOTCH2
  • NPHP3
  • NRIP1
  • NSDHL
  • NXN
  • OFD1
  • OSGEP
  • PAX2
  • PAX8
  • PBX1
  • PCSK5
  • PDE6D
  • PEX1
  • PEX10
  • PEX11B
  • PEX12
  • PEX13
  • PEX14
  • PEX16
  • PEX19
  • PEX2
  • PEX26
  • PEX3
  • PEX5
  • PEX6
  • PHGDH
  • PIBF1
  • PIEZO2
  • PIGN
  • PIGT
  • PMM2
  • PORCN
  • PTEN
  • PUF60
  • RAD21
  • RAI1
  • REN
  • RERE
  • RET
  • RFWD3
  • RMND1
  • RNU4ATAC
  • ROBO2
  • ROR2
  • RPGRIP1L
  • RPL26
  • SALL1
  • SALL4
  • SDCCAG8
  • SEMA3E
  • SF3B4
  • SIX1
  • SIX2
  • SIX5
  • SLIT2
  • SNRPB
  • SON
  • SOX11
  • SOX17
  • SRGAP1
  • STK11
  • STRA6
  • SUFU
  • TBC1D24
  • TBX18
  • TBX4
  • TBXT
  • TCTN1
  • TCTN2
  • TCTN3
  • TFAP2A
  • THOC6
  • TMEM107
  • TMEM138
  • TMEM216
  • TMEM231
  • TMEM237
  • TMEM260
  • TMEM67
  • TNXB
  • TP53RK
  • TP63
  • TPRKB
  • TRAF3IP1
  • TRAP1
  • TRIM32
  • TRIP11
  • TRPS1
  • TRRAP
  • TSC1
  • TSC2
  • TTC21B
  • TTC37
  • TTC8
  • TXNL4A
  • UMOD
  • UPK3A
  • VANGL1
  • VANGL2
  • VHL
  • WDPCP
  • WDR19
  • WDR34
  • WDR35
  • WDR60
  • WDR73
  • WFS1
  • WNT3
  • WNT4
  • WNT5A
  • WNT7A
  • XRCC2
  • XRCC4
  • ZIC3
  • ZMPSTE24
  • ZNF148

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.