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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

3 Accredited laboratory test

Examined sequence length

0,0 kb (Core-/Core-canditate-Genes)
5,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
MYBPC3	3825	600958	NM_000256.3	AD, AR
TNNI3	633	191044	NM_000363.5	AD, AR
TNNT2	867	191045	NM_001001430.3	AD

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