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ErkrankungWT1-Erkrankung; DD Wilms-Tumor-Prädisposition + Steroid-resistentes nephrotisches Syndrom

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für WT1-Erkrankung [DD Wilms-Tumor-Prädisposition + Steroid-resistentes nephrotisches Syndrom] mit 1 Leitlinien-kuratierten und zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
WP0040
Anzahl Gene
23 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,6 kb (Core-/Basis-Gene)
76,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
WT11569AD und/oder Dig und/oder SMu und/oder Sus
BLM4254AR und/oder Sus
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
BUB1B3153AD und/oder AR und/oder Sus
CDC731596AD und/oder Sus
COL4A35013AD und/oder AR und/oder Dig
COL4A45073AD und/oder AR und/oder Dig
COL4A55058XLD
CTR93547AD
DICER15769AD und/oder Sus
DIS3L22658AR und/oder Sus
GPC31743XLR und/oder SMu und/oder Sus
GPC41671XLR und/oder Sus
LMX1B1188AD
NPHS13726AR und/oder Dig
NPHS21152AR und/oder Dig
PALB23561AD und/oder Sus
PIK3CA3207AD und/oder SMu und/oder Sus
POU6F21968AD und/oder SMu und/oder Sus
REST3294AD und/oder Sus
SMARCAL12865AR
TP531182AD und/oder SMu und/oder Sus
TRIM372895AR und/oder Sus

Infos zur Erkrankung

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Dig und/oder SMu und/oder Sus
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Dig
  • AR und/oder Sus
  • XLD
  • XLR und/oder SMu und/oder Sus
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.8

Bioinformatik und klinische Interpretation

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