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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessWT1 disorder; DD disorders of testis development + DSD

Summary

Short information

Comprehensive differential diagnostic panel for WT1 disorder [DD disorders of testis development + DSD] containing 1 core candidate gene and altogether 24 curated genes according to the clinical signs

ID
WP0042
Number of loci
Locus typeCount
Gen 23
Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
40,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
WT11569NM_024426.6AD, SMu
AKR1C2420NM_001354.6AR
AKR1C4972NM_001818.5AR
ANOS12043NM_000216.4XLR
AR2763NM_000044.6XLR
ATRX7479NM_000489.6XLR
CBX21599NM_005189.3AR
CYP11A11566NM_000781.3AR, AD
CYP17A11527NM_000102.4AR
DHCR71428NM_001360.3AR
DHH1191NM_021044.4AR
DMRT11122NM_021951.3AD
GATA41329NM_002052.5AD
HSD17B3933NM_000197.2AR
HSD3B21119NM_000198.4AR
LHCGR2100NM_000233.4AD, AR
MAP3K14539NM_005921.2AD
NR5A11386NM_004959.5AD, AR
POR2043NM_001395413.1AR
SOX91530NM_000346.4AD
SRD5A2764NM_000348.4AR
SRY615NM_003140.3YL
STAR858NM_000349.3AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
  • XLR
  • YL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined