Deutsch
IllnessMorbus Pompe, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Pompe syndrome comprising 5 curated genes according to the clinical signs
ID
MP9911
Number of loci
| Loci type | Count |
|---|---|
| Gen | 9 |
Examined sequence length
2,9 kb (Core-/Core-canditate-Genes)
29,5 kb (Extended panel: incl. additional genes)
29,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Informations about the disease
Clinical Comment
illness_ClinicalComment_MP9911
Synonyms
- Alias: Alpha-1,4-glucosidase acid deficiency (GAA)
- Alias: Alpha-1,4-glucosidase deficiency (GAA)
- Alias: GAA deficiency (GAA)
- Alias: Glycogen storage disease type 2; GSD type 2 (GAA)
- Alias: Glycogenosis type 2, Glycogenosis type II (GAA)
- Alias: Glycogenosis, generalised, cardiac form (GAA)
- Alias: Pompe disease (GAA)
- Allelic: Cardiomyopathy, dilated, 3B (DMD)
- Becker muscular dystrophy (DMD)
- Carnitine deficiency, systemic primary (SLC22A5)
- Danon disease (LAMP2)
- Duchenne muscular dystrophy (DMD)
- Glycogen storage disease II; GSD type II (GAA)
- Glycogen storage disease IIIa + IIIb (AGL)
- Glycogen storage disease IV (GBE1)
- Glycogen storage disease VI (PYGL)
- McArdle disease (PYGM)
- Polyglucosan body disease, adult form (GBE1)
- Spinal muscular atrophy-1 to -4 (SMN1)
Heredity, heredity patterns etc.
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined