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

IllnessWT1 disorder, DD Wilms tumor predisposition + Steroid-resistant nephrotic syndrome


Short information

Comprehensive differential diagnostic panel for WT1 disorder [DD Wilms tumor predisposition + Steroid-resistant nephrotic syndrome] containing 1 guideline-curated gene, furthermore 3 core candidate genes and altogether 17 curated genes according to the clinical signs

Number of genes
16 Accredited laboratory test
Examined sequence length
9,4 kb (Core-/Core-canditate-Genes)
61,1 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-GReferenz-Seq.Heredity
WT11569NM_024426.6AD, SMu
BRCA210257NM_000059.4AD, SMu
COL4A35013NM_000091.5AD, AR
COL4A45073NM_000092.5AD, AR
DICER15769NM_177438.3AD, Sus
GPC31743NM_004484.4XLR, Sus, SMu
POU6F21968NM_001166018.2AD, Sus
REST3294NM_005612.5AD, Sus

Informations about the disease

  • Wilms tumor, type 1 (WT1)
  • Denys-Drash syndrome (WT1)
  • Frasier syndrome (WT1)
  • Meacham syndrome (WT1)
  • Mesothelioma, somatic (WT1)
  • Nephrotic syndrome, type 4 (WT1)
  • Allelic: Alport syndrome 1, XL (COL4A5)
  • Allelic: Alport syndrome 2, AR (COL4A3, COL4A4)
  • Allelic: Alport syndrome 3, AD (COL4A3)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Breast cancer, somatic (PIK3CA)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: Breast cancer, susceptibility to (PALB2)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: CLAPO syndrome, somatic (PIK3CA)
  • Allelic: CLOVE syndrome, somatic (PIL3CA)
  • Allelic: Deafness, AD 27 (REST)
  • Allelic: Fanconi anemia, complementation group D1 (BRCA2)
  • Allelic: Fanconi anemia, complementation group N (PALB2)
  • Allelic: Fibromatosis, gingival, 5 (REST)
  • Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Allelic: Hyperparathyroidism, familial primary (CDC73)
  • Allelic: Hyperparathyroidism-jaw tumor syndrome (CDC73)
  • Allelic: Nasopharyngeal carcinoma, somatic (TP53)
  • Allelic: Parathyroid adenoma with cystic changes (CDC73)
  • Allelic: Parathyroid carcinoma (CDC73)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Bloom syndrome (BLM)
  • Colorectal cancer, somatic (BUB1B)
  • Colorectal cancer, somatic (PIK3CA)
  • Cowden syndrome 5 (PIK3CA)
  • Familial Wilms tumor [panelapp] (CTR9)
  • Focal segmental glomerulosclerosis 10 (LMX1B)
  • GLOW syndrome, somatic mosaic [Global devel. delay, Lung cysts, Overgrowth, WT] (DICER1)
  • Hematuria, benign familial (COL4A3, COL4A4)
  • Hepatocellular carcinoma, somatic (TP53)
  • Keipert syndrome [craniofacial + digital abnormalities, learning difficulties] (GPC4)
  • Li-Fraumeni syndrome (TP53)
  • Mosaic variegated aneuploidy syndrome 1 (BUB1B)
  • Mulibrey nanism (TRIM37)
  • Nail-patella syndrome (LMX1B)
  • Nephrotic syndrome, type 1 (NPHS1)
  • Nephrotic syndrome, type 2 (NPHS2)
  • Ovarian cancer, somatic (PIK3CA)
  • Pancreatic cancer, somatic (TP53)
  • Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Perlman syndrome [similar to Beckwith-Wiedemann syndrome] (DIS3L2)
  • Schimke immunoosseous dysplasia (SMARCAL1)
  • Simpson-Golabi-Behmel syndrome, type 1 [overgrowth, face, cong. heart defects + add.] (GPC3)
  • Wilms tumor (BRCA2)
  • Wilms tumor 6, susceptibility to (REST)
  • Wilms tumor susceptibility-5 (POU6F2)
  • Wilms tumor, somatic (GPC3)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
  • Sus
  • XL
  • XLR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined