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

IllnessMastocytosis, differential diagnosis

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Summary

Short information

Comprehensive panel for mastocytosis containing 1 core candidate gene and 2 additional genes relevant in the differential diagnosis

ID
MP9088
Number of loci
No loci linked Accredited laboratory test
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

No loci linked

Informations about the disease

Synonyms
  • DD: C-cell hyperplasia [GeneReviews]
  • Allelic: Basal cell carcinoma, somatic (RASA1)
  • Allelic: Gastrointestinal stromal tumor, familial (KIT)
  • Allelic: Germ cell tumors, somatic (KIT)
  • Allelic: Leukemia, acute myeloid, somatic (KIT)
  • Allelic: Piebaldism (KIT)
  • Capillary malformation-arteriovenous malformation 1 (RASA1)
  • GNB1 encephalopathy (GNB1)
  • Mastocytosis, cutaneous (KIT)
  • Mastocytosis, systemic, somatic (KIT)
  • Mastocytosis-assiciated genes (ASXL1, CBL, RUNX1, SRSF2, TET2)
  • Multifocal capillary malformations (RASA1)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined