©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessWilms tumor [including susceptibility], differential diagnosis


Short information

Comprehensive differential diagnostic panel for Wilms tumor [including susceptibility] comprising 2 guideline-curated genes and altogether 18 curated genes according to the clinical signs

Number of genes
18 Accredited laboratory test
Examined sequence length
17,1 kb (Core-/Core-canditate-Genes)
55,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
BRCA210257AD, SMu
WT11569AD, SMu
CDKN1C951AD, Sus
DICER15769AD, Sus
DIS3L22658AR, Sus
GPC31743XLR, SMu, Sus
GPC41671XLR, Sus

Informations about the disease

Clinical Comment

Wilms tumor is a form of kidney cancer that develops primarily in children before the age of 10 and up to 2/3 before the age of 5 years. Some affected children have pain, fever, anemia, hematuria or hypertension and/or additional general signs. About 5-10% of affected patients develop multiple tumors in one or both kidneys. The tumor may metastasize and rarely occurs in the genital tract, bladder, abdomen, chest or lower back. With adequate treatment, children with Wilms tumor have a 90% survival rate. Syndromes that share common genetic causes with Wilms tumors may also be associated with this cancer, such as WAGR, Denys-Drash, Frasier and Meacham syndrome, including Beckwith-Wiedemann syndrome. Wilms tumors based on WT1 germline variants are inherited in an autosomal dominant manner with variable expressivity and reduced penetrance. 90% of Wilms tumor cases are not inherited but are due to somatic mutations, and 10% have germline mutations. Although the percentages are higher for bilateral Wilms tumors, <25% of unilateral Wilms tumors have WT1 mutations. Other, partially unknown genes are also associated with Wilms tumor development, and there is a rather comprehensive list of susceptibility genes. Cumulative mutation frequency values for the genes in this panel are not currently available.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK556455/


  • Alias: Nephroblastoma
  • Alias: Renal embryonic tumor
  • Allelic: Adrenocortical, breast, colorectal, gastric, hepatocell., nsc lung, ovarian cancer (PIK3CA)
  • Allelic: Basal cell, breast, coloretal, hepatocellular, nasopharyngeal pancreatic cancers (TP53)
  • Allelic: Choroid plexus papilloma, glioma, Li-Fraumeni syndrome, osteosarcoma (TP53)
  • Allelic: Fanconi anemia, complementation group D1 (BRCA2)
  • Allelic: Fanconi anemia, complementation group N (PALB2)
  • Allelic: Frasier syndrome (WT1)
  • Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Allelic: Hyperparathyroidism-jaw tumor syndrome (CDC73)
  • Allelic: IMAGE syndrome (CDKN1C)
  • Allelic: Parathyroid carcinoma (CDC73)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Allelic: Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
  • Beckwith-Wiedemann syndrome (CDKN1C, ICR1, KCNQ1OT1)
  • Bloom syndrome (BLM)
  • Denys-Drash syndrome (WT1)
  • Familial Wilms tumor [panelapp] (CTR9)
  • GLOW [Global devel. delay, Lung cysts, Overgrowth + Wilms tumor] syndrome, somatic mosaic (DICER1)
  • Keipert syndrome (GPC4)
  • Mosaic variegated aneuploidy syndrome 1 (BUB1B)
  • Mulibrey nanism (TRIM37)
  • Perlman syndrome (DIS3L2)
  • Spastic paraplegia + psychomotor retardation with/-out seizures (HACE1)
  • WAGR syndrome: Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation
  • Wilms tumor (BRCA2)
  • Wilms tumor 6, susceptibility to (REST)
  • Wilms tumor susceptibility-5 (POU6F2)
  • Wilms tumor, somatic (GPC3)
  • Wilms tumor, type 1 (WT1)
  • Wilms tumour [panelapp] (NYNRIN)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
  • Sus
  • XLR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined