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

IllnessMelanoma + renal carcinoma, MITF-associated

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Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Melanoma + renal carcinoma, MITF-associated

ID
MS5310
Number of genes
1 Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MITF1260NM_000248.4AD

Informations about the disease

Clinical Comment

MiT family translocation renal cell carcinoma rare subtype of renal cell carcinoma with recurrent genetic abnormalities, rearrangements of TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes; symptoms usually non-specific; hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue, fever

 

Synonyms
  • Alias: Renal cell carcinoma associated with MITF/TFE translocation (MITF)
  • Allelic: COMMAD syndrome (MITF)
  • Allelic: Tietz albinism-deafness syndrome (MITF)
  • Allelic: Waardenburg Syndrom 2A (MITF)
  • Allelic: Waardenburg syndrome, type 2A (MITF)
  • Allelic: Waardenburg syndrome/ocular albinism, digenic (MITF)
  • Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined