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

IllnessFrasier syndrome


Short information

Curated single gene sequence analysis according to the clinical suspicion Frasier syndrome

Number of genes
1 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
WT11569AD, SMu

Informations about the disease

Clinical Comment

Syndromic glomerular disorder with progressive glomerular nephropathy + 46XY complete gonadal dysgenesis, high risk for developing gonadoblastomas

DD Wilms tumor: BLM, BRCA2, BUB1B, CDC73, CTR9, DICER1, DIS3L2, GPC3, GPC4, PALB2, PIK3CA, REST, TP53, TRIM37 genes

DD non-syndromic disorders of testis development: DHH, DMRT1, MAP3K1, NR5A1, SRY, STAR, CYP11A1, HSD3B2, CYP17A1, POR, HSD17β3, SRD5A2, AKR1C2, KR1C4, LHCGR, KAL1, AR, CBX2 genes

DD Diaphragmatic hernias s. ZP3999


  • WT1 disorders: Denys-Drash, Frasier + Meacham syndromes [glomerulopathy with large symptom overlap]
  • Allelic: Denys-Drash syndrome (WT1)
  • Allelic: Meacham syndrome (WT1)
  • Allelic: Nephrotic syndrome, type 4 (WT1)
  • Allelic: Wilms tumor, type 1 (WT1)
  • Pseudohermaphroditism + progressive glomerulopathy, normal female external genitalia (WT1)
  • Streak gonads, XY karyotype, gonadoblastoma (WT1)
Heredity, heredity patterns etc.
  • AD
  • SMu
ICD10 Code

Bioinformatics and clinical interpretation

No text defined