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IllnessMorbus Pompe, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Pompe disease containing 1 guideline-curated gene and altogther 9 curated genes according to the clinical signs
ID
MP9911
Number of genes
9
Accredited laboratory test
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 +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| GAA | 2859 | NM_000152.5 | AR | |
| AGL | 4599 | NM_000642.3 | AR | |
| DMD | 11058 | NM_004006.3 | XLR | |
| GBE1 | 2109 | NM_000158.4 | AR | |
| LAMP2 | 1233 | NM_002294.3 | XL | |
| PYGL | 2544 | NM_002863.5 | AR | |
| PYGM | 2529 | NM_005609.4 | AR | |
| SLC22A5 | 1674 | NM_003060.4 | AR | |
| SMN1 | 885 | NM_000344.4 | AR |
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