Congenital anomalies of the kidney and urinary tract (CAKUT) [63 genes]

Congenital anomalies of kidney and urinary tract (CAKUT) are a wide group of disorders involving altered nephron formation, abnormal embryonic ascent of the kidney, and alterations in the development of the collecting system. The most frequent characteristic is urinary tract dilation (about 28%). Many CAKUT are associated with multi-organ syndromes, but most of them are observed in non-syndromic patients. There is a monogenic cause in up to 18% of
CAKUT patients, usually following an autosomal dominant pattern of inheritance.
The diagnosis can be challenging due to the phenotypic and genotypic heterogeneity and incomplete penetrance observed in CAKUT.

  • Renal dysplasia
  • Renal hypoplasia
  • Renal agenesis
  • Renal tubular dysgenesis
  • Cystic disease
  • Ectopic kidney
  • Fused kidney
  • Alterations in ureteropelvic junction, ureter, bladder, and urethra

Prevalence: 3-6/1,000 (ADPKD)

  • Genotype-phenotype correlation to anticipate adverse kidney events
  • Genetic counseling

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5. Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Congenital anomalies of the kidney and urinary tract (CAKUT)

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110415

Congenital anomalies of the kidney and urinary tract (CAKUT): View panel
  • ACE
  • ACTG1
  • AGT
  • AGTR1
  • AMER1
  • ANOS1
  • BMP4
  • BNC2
  • BSCL2
  • CDC5L
  • CHD1L
  • CHRM3
  • CISD2
  • CRKL
  • DACH1
  • DSTYK
  • EP300
  • ETV4
  • EYA1
  • FGF20
  • FLNA
  • FMN1
  • FOXP1
  • FRAS1
  • FREM1
  • FREM2
  • GATA3
  • GDF11
  • GRIP1
  • HNF1B
  • HPSE2
  • IFT46
  • IFT52
  • IFT81
  • ITGA8
  • LRIG2
  • LRP2
  • MUC1
  • MYCN
  • NOTCH2
  • NRIP1
  • PAX2
  • PAX8
  • PBX1
  • PCSK5
  • REN
  • RET
  • ROBO2
  • SALL1
  • SIX1
  • SIX2
  • SIX5
  • SLIT2
  • SOX17
  • SRGAP1
  • TBX18
  • TNXB
  • TRAP1
  • TRPS1
  • UMOD
  • WFS1
  • WNT4
  • ZMPSTE24

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.

References

  1. Cabezalí Barbancho D et al. Anomalías congénitas del riñón y del tracto urinario. An Pediatr Contin. 2013;11(6):325-32.
  2. Ahn YH et al. Targeted exome sequencing provided comprehensive genetic diagnosis of genetic diagnosis of congenital anomalies of the kidney and the urinary tract. J. Clin. Med. 2020, 9, 751; doi:10.3390/jcm9030751.
  3. Showmaker KC et al. Whole genome sequencing and novel candidate genes for CAKUT and altered nephrogenesis in the HSRA rat. Physiol Genomics. 2020 Jan 1;52(1):56-70. doi: 10.1152/physiolgenomics.00112.2019. Epub 2019 Dec 16.