English
ErkrankungCarnitin-Palmitoyl-Transferase II-Mangel, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Carnitin-Palmitoyl-Transferase II-Mangel mit zusammen genommen 15 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP9241
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
2,0 kb (Core-/Basis-Gene)
50,2 kb (Erweitertes Panel)
50,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS v +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| CPT2 | 1977 | AD und/oder AR und/oder Dig | |
| AMPD1 | 2343 | AR | |
| CACNA1S | 5622 | AD | |
| CPT1A | 2322 | AR | |
| DMD | 11058 | XLR | |
| ETFA | 1002 | AR | |
| ETFB | 768 | AR | |
| ETFDH | 1854 | AR | |
| PFKM | 2343 | AR | |
| PYGM | 2529 | AR und/oder Dig | |
| RYR1 | 15117 | AD und/oder AR | |
| SLC25A20 | 906 | AR | |
| STAC3 | 1095 | AR | |
| TANGO2 | 1252 | AR |
Infos zur Erkrankung
Synonyme
- Alias: CPT2 deficiency
- Alias: Carnitine palmitoyltransferase 2 deficiency
- Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
- CPT II deficiency, infantile (CPT2)
- CPT II deficiency, lethal neonatal (CPT2)
- CPT II deficiency, myopathic, stress-induced (CPT2)
- CPT deficiency, hepatic, type IA (CPT1A)
- Carnitine deficiency, systemic primary (SLC22A5)
- Carnitine-acylcarnitine translocase deficiency (SLC25A2)
- Central core disease (RRYR1)
- Duchenne/Becker muscular dystrophy (DMD)
- Glutaric acidemia IIA (ETFA)
- Glutaric acidemia IIB (ETFB)
- Glutaric acidemia IIC (ETFDH)
- Glycogen storage disease VII (PFKM)
- Hypokalemic periodic paralysis, type 1 (CACNA1S)
- King-Denborough syndrome (RYR1)
- McArdle disease (PYGM)
- Metabolic encephalomyop. crises, recurrent, rhabdomyol., cardiac arrhythm., neurodegener. (TANGO2)
- Myopathy due to myoadenylate deaminase deficiency (AMPD1)
- Myopathy, congenital, Baily-Bloch (STAC3)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AR
- AR und/oder Dig
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E71.3
Bioinformatik und klinische Interpretation
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