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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessDanon disease, differential diagnosis

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Summary

Short information

A comprehensive differential diagnostic panel for Danon disease containing 7 curated genes

ID
MP3847
Number of genes
1 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
3,9 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-GReferenz-Seq.Heredity
MYBPC33825NM_000256.3AD, AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_MP3847

 

Synonyms
  • Alias: Antopol disease
  • Alias: Glycogen storage disease due to LAMP-2 deficiency
  • Alias: Lysosomal glycogen storage disease with normal acid maltase activity
  • Alias: Pseudoglycogenosis II
  • Alias: Vacuolar cardiomyopathy + myopathy, XL
  • Cardiomyopathy, dilated, 1D (TNNT2)
  • Cardiomyopathy, dilated, 1FF (TNNI3)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 2A (TNNI3)
  • Cardiomyopathy, familial restrictive 1 (TNNI3)
  • Cardiomyopathy, familial restrictive, 3 (TNNT2)
  • Cardiomyopathy, hypertrophic 6 (PRKAG2)
  • Cardiomyopathy, hypertrophic, 2 (TNNT2)
  • Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Cardiomyopathy, hypertrophic, 7 (TNNI3)
  • Danon disease (LAMP2)
  • Glycogen storage disease II (GAA)
  • Glycogen storage disease of heart, lethal congenital (PRKAG2)
  • Left ventricular noncompaction 10 (MYBPC3)
  • Left ventricular noncompaction 6 (TNNT2)
  • Myopathy, XL, with excessive autophagy (VMA21)
  • Wolff-Parkinson-White syndrome (PRKAG2)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined