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

IllnessKidney cysts, medullary, type 1+2


Short information

Two curated single gene sequence analyses according to the clinical suspicion Kidney cysts, medullary, type 1+2

Number of genes
2 Accredited laboratory test
Examined sequence length
2,8 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

Informations about the disease

Clinical Comment

Kidney cysts can be clinically insignificant but can also lead to early end-stage renal failure. The cystic kidney is a disease that is diagnosed on the basis of kidney size and cyst localisation, and possibly by extra-renal symptoms. Cystic kidney disease (CKD) can also be associated with extra-renal symptoms in multisystemic diseases, such as tuberous sclerosis and von Hippel-Lindau syndrome. Causal pathogenetic differentiation must also be made between glomerulocystic and medullary forms of CKD and juvenile nephronophthisis. CKDs therefore have very different causes, hereditary, systemic or rarely acquired and can develop in children and adults. Inherited CKDs are often autosomal dominant (ADPKD) or more rarely autosomal recessive CKDs (ARPKD), each with variable expressivity and penetrance. In over 90% of familial CDKs, the genetic causes can currently be clarified by molecular genetics. However, an inconspicuous genetic finding does not mean that the clinically suspected diagnosis of CKD can be excluded.

References: https://www.ncbi.nlm.nih.gov/books/NBK1246/https://www.ncbi.nlm.nih.gov/books/NBK1326/https://www.ncbi.nlm.nih.gov/books/NBK1356/



  • Alias: AD medullary cystic kidney disease
  • Alias: Medullary cystic kidney disease
  • Allelic: Glomerulocystic kidney disease with hyperuricemia + isosthenuria (UMOD)
  • Allelic: Hyperuricemic nephropathy, familial juvenile 1 (UMOD)
  • Medullary cystic kidney disease 1 (MUC1)
  • Medullary cystic kidney disease 2 (UMOD)
Heredity, heredity patterns etc.
  • AD
  • co-dominant
ICD10 Code

Bioinformatics and clinical interpretation

No text defined