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

IllnessMIRAGE syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for MIRAGE syndrome comprising 5 curated genes according to the clinical signs

ID
MP7114
Number of genes
6 Accredited laboratory test
Examined sequence length
9,6 kb (Core-/Core-canditate-Genes)
20,5 kb (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-GHeredity
SAMD94770AD
SAMD9L4756AD
AAAS1641AR
CDKN1C951AD
GATA21443AD
POLE6861AD

Informations about the disease

Synonyms
  • MIRAGE: Myelodysplasia/Infection/growth Restriction/Adrenal hypoplasia/Genital sympt./Enteropathy
  • Allelic: Colorectal cancer, susceptibility to, 12 (POLE)
  • Allelic: Leukemia, acute myeloid, susceptibility to (GATA2)
  • Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
  • Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
  • Allelic: Myelodysplastic syndrome, susceptibility to GATA2)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Ataxia-pancytopenia syndrome (SAMD9L)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Emberger syndrome (GATA2)
  • FILS syndrome [Facial dysm., Immunodeficiency, Livedo, Short stature syndrome] (POLE)
  • IMAGE syndrome (CDKN1C)
  • IMAGE-I syndrome (POLE)
  • Immunodeficiency 21 (GATA2)
  • MIRAGE syndrome (SAMD9)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined