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ErkrankungWT1-Erkrankung; DD Störungen der Testes-Entwicklung + DSD

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für WT1-Erkrankung [DD Störungen der Testes-Entwicklung + DSD] mit zusammen genommen 24 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
WP0042
Anzahl Gene
23 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,6 kb (Core-/Basis-Gene)
40,9 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
AKR1C2420AR
AKR1C4972AR
ANOS12043XLR
AR2763XLR und/oder SMu
ATRX7479XL und/oder SMu und/oder Impr
CBX21599AR
CYP11A11566AR
CYP17A11527AR
DHCR71428AR
DHH1191AR
DMRT11122AD
GATA41329AD
HSD17B3933AR
HSD3B21119AR
LHCGR2100AD und/oder AR
MAP3K14539AD
NR5A11386AD und/oder AR
POR2043AR
SOX91530AD
SRD5A2764AR
SRY615XL/YL
STAR858AR

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)
  • 17,20-lyase deficiency, isolated (CYp17A1)
  • 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
  • 46XX sex reversal 1 (SRY)
  • 46XX sex reversal 4 (NR5A1)
  • 46XY disorder of testicular development [genereviews] (DMRT1)
  • 46XY gonadal dysgenesis with minifascicular neuropathy (DHH)
  • 46XY sex reversal 1 (SRY)
  • 46XY sex reversal 3 (NR5A1)
  • 46XY sex reversal 5 (CBX2)
  • 46XY sex reversal 6 (MAP3K1)
  • 46XY sex reversal 7 (DHH)
  • 46XY sex reversal 8 (AKR1C2)
  • 46XY sex reversal 8, modifier of (AKR1C4)
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
  • Adrenocortical insufficiency (NR5A1)
  • Allelic: Acampomelic campomelic dysplasia (SOX9)
  • Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
  • Allelic: Campomelic dysplasia (SOX9)
  • Allelic: Tetralogy of Fallot (GATA4)
  • Androgen insensitivity (AR)
  • Androgen insensitivity, partial, with/-out breast cancer (AR)
  • Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
  • Hypospadias 1, XL (AR)
  • Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
  • Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
  • Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
  • Lipoid adrenal hyperplasia (STAR)
  • Luteinizing hormone resistance, female (LHCGR)
  • Mental retardation-hypotonic facies syndrome, XL (ATRX)
  • Partington syndrome (ARX)
  • Precocious puberty, male (LHCGR)
  • Proud syndrome (ARX)
  • Pseudohermaphroditism, male, with gynecomastia (HSD17B3)
  • Pseudovaginal perineoscrotal hypospadias (SRD5A2)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Spinal + bulbar muscular atrophy of Kennedy (AR)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Dig und/oder SMu und/oder Sus
  • AR
  • XL und/oder SMu und/oder Impr
  • XL/YL
  • XLR
  • XLR und/oder SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.8

Bioinformatik und klinische Interpretation

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