Klinische FragestellungWT1-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 Gen, 3 weiteren "core candidate"-Genen und zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose

WP0040

Anzahl Gene

16 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

9,4 kb (Core-/Core-canditate-Gene)
61,1 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
NPHS1	3726	602716	NM_004646.4	AR
NPHS2	1152	604766	NM_014625.4	AR
SMARCAL1	2865	606622	NM_001127207.2	AR
WT1	1569	607102	NM_024426.6	AD, SMu
BLM	4254	604610	NM_000057.4	AR
BRCA2	10257	600185	NM_000059.4	AD, SMu
BUB1B	3153	602860	NM_001211.6	AR
COL4A3	5013	120070	NM_000091.5	AD, AR
COL4A4	5073	120131	NM_000092.5	AD, AR
COL4A5	5058	303630	NM_000495.5	XL
CTR9	3547	609366	NM_014633.5	AD
DICER1	5769	606241	NM_177438.3	AD, Sus
DIS3L2	2658	614184	NM_152383.5	AD
GPC3	1743	300037	NM_004484.4	XLR, Sus, SMu
POU6F2	1968	609062	NM_001166018.2	AD, Sus
REST	3294	600571	NM_005612.5	AD, 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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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