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ErkrankungWT1-Erkrankung; DD kongenitale Zwerchfell-Hernien

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für WT1-Erkrankung [DD kongenitale Zwerchfell-Hernien] mit zusammen genommen 64 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
WP0041
Anzahl Gene
46 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,6 kb (Core-/Basis-Gene)
166,8 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
ARID1A6858AD und/oder SMu und/oder Sus und/oder Impr
ARID1B6750AD und/oder SMu und/oder Impr
CDKN1C951AD und/oder Sus
CHD78994AD und/oder Impr
COL3A14401AD und/oder AR und/oder Mult
COX7B243XLD
DLL31857AR
EFNB11041XLD
FBN18616AD und/oder Mult
FGFR22466AD und/oder Sus
FRAS112039AR
FREM29510AR
GATA41329AD
GATA61788AD
GPC31743XLR und/oder SMu und/oder Sus
HCCS807XLD
HDAC81134XLD
HES7678AR
KDM6A4206XLD und/oder Impr
KMT2D16614AD und/oder SMu und/oder Sus und/oder Impr
LFNG1140AR
LRP213968AR
LTBP44763AR
MESP21194AR
MYRF3506AD
NDUFB11462XL und/oder XLD
NIPBL8415AD und/oder Impr
NR2F21245AD
PIGN2796AR
POGZ4233AD
PORCN1386XLD
RAD211896AD und/oder AR und/oder SMu und/oder Impr
RARB1347AD und/oder AR
RIPPLY2391AR und/oder Ass
RLIM1875XL
SLC2A101626AR
SMARCA45040AD und/oder SMu und/oder Impr
SMARCB11158AD und/oder SMu und/oder Sus und/oder Impr
SMARCE11236AD
SMC1A3702XLD und/oder Impr
SMC33654AD und/oder SMu und/oder Impr
SOX111326AD und/oder Impr
STRA62004AR
TBX61311AD und/oder AR
ZFPM23456AD

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)
  • 46XX sex reversal 5 (NR2F2)
  • 46XY sex reversal 9 (ZFPM2)
  • Allelic: Atrial septal defect 2 (GATA4)
  • Allelic: Atrioventricular septal defect 4 (GATA4)
  • Allelic: Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
  • Allelic: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MYRF)
  • Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Allelic: Meningioma, familial, susceptibility to (SMARCE1)
  • Allelic: Mitochondrial complex I deficiency, nuclear type 30 (NDUFB11)
  • Allelic: Pancreatic agenesis + congenital heart defects (GATA6)
  • Allelic: Persistent truncus arteriosus (GATA6)
  • Allelic: Polymicrogyria with/-out vascular-type EDS (COL3A1)
  • Allelic: Testicular anomalies with/-out congenital heart disease (GATA4)
  • Allelic: Ventricular septal defect 1 (GATA4)
  • Apert syndrome (FGFR2)
  • Arterial tortuosity syndrome (SLC2A10)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • CHARGE syndrome [Coloboma, Heart anomaly, choanal Atresia, Retardation, Genital + Ear anmal.] (CHD7)
  • Cardiac-urogenital syndrome (MYRF)
  • Coffin-Siris syndrome 1 (ARID1B)
  • Coffin-Siris syndrome 2 (ARID1A)
  • Coffin-Siris syndrome 3 (SMARCB1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • Coffin-Siris syndrome 5 (SMARCE1)
  • Coffin-Siris syndrome 9 (SOX11)
  • Congenital heart defects, multiple types, 4 (NR2F2)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Craniofrontonasal dysplasia (EFNB1)
  • Cutis laxa, AR, type IC (LTBP4)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Diaphragmatic hernia 3 (ZFPM2)
  • Donnai-Barrow syndrome (LRP2)
  • Ehlers-Danlos syndrome, vascular type (COL3A1)
  • Focal dermal hypoplasia (PORCN)
  • Fraser syndrome 1 (FRAS1)
  • Fraser syndrome 2 (FREM2)
  • IMAGE syndrome (CDKN1C)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Linear skin defects with multiple congenital anomalies (HCCS)
  • Linear skin defects with multiple congenital anomalies 2 (COX7B)
  • Linear skin defects with multiple congenital anomalies 3 (NDUFB11)
  • MASS syndrome (FBN1)
  • Marfan syndrome (FBN1)
  • Microphthalmia, syndromic 12 (RARB)
  • Microphthalmia, syndromic 9 (STRA6)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Mungan syndrome (RAD21)
  • Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • Rhabdoid tumors, somatic (SMARCB1)
  • Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
  • Spondylocostal dysostosis 1, AR (DLL3)
  • Spondylocostal dysostosis 2, AR (MESP2)
  • Spondylocostal dysostosis 3, AR (LFNG)
  • Spondylocostal dysostosis 4, AR (HES7)
  • Spondylocostal dysostosis 5 (TBX6)
  • Spondylocostal dysostosis 6 (RIPPLY2)
  • Tetralogy of Fallot (GATA4)
  • Tetralogy of Fallot (GATA6)
  • Tetralogy of Fallot (ZFPM2)
  • Tonne-Kalscheuer syndrome [multiple congenital anomalies + global developmental delay] (RLIM)
  • White-Sutton syndrome [delayed psychomotor development + dysmorphic face] (POGZ)
  • Wilms tumor, somatic (GPC3)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Mult
  • AD und/oder AR und/oder SMu und/oder Impr
  • AD und/oder Dig und/oder SMu und/oder Sus
  • AD und/oder Impr
  • AD und/oder Mult
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus und/oder Impr
  • AD und/oder Sus
  • AR
  • AR und/oder Ass
  • XL
  • XL und/oder XLD
  • XLD
  • XLD und/oder Impr
  • XLR und/oder SMu und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.8

Bioinformatik und klinische Interpretation

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