English
ErkrankungMultipler Acyl-CoA Dehydrogenase Mangel, nicht-neonatal; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Multipler Acyl-CoA Dehydrogenase Mangel, nicht-neonatal; Differentialdiagnose, mit 6 bzw. zusammen genommen 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP3331
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,8 kb (Core-/Basis-Gene)
30,7 kb (Erweitertes Panel)
30,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| ETFA | 1002 | AR | |
| ETFB | 768 | AR | |
| ETFDH | 1854 | AR | |
| SLC52A1 | 1347 | AD | |
| SLC52A2 | 1338 | AR | |
| SLC52A3 | 1410 | AR | |
| ACADM | 1266 | AR | |
| ACADVL | 1968 | AR | |
| ALDOA | 1095 | AR | |
| CPT1A | 2322 | AR | |
| CPT2 | 1977 | AD und/oder AR und/oder Dig | |
| ENO3 | 1305 | AR | |
| FLAD1 | 2021 | AR | |
| LDHA | 999 | AR | |
| PFKM | 2343 | AR | |
| PGAM2 | 762 | AR | |
| PGM1 | 1743 | AR | |
| PYGM | 2529 | AR und/oder Dig | |
| SLC22A5 | 1674 | AR und/oder Mult | |
| SLC25A20 | 906 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Glutaric aciduria type 2, mild type
- Alias: Multiple Acyl-CoA Dehydrogenase Deficiency, mild type
- Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
- Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
- Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
- Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
- 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 (SLC25A20)
- Congenital disorder of glycosylation, type It (PGM1)
- Fazio-Londe disease (SLC52A3)
- Glutaric acidemia IIA (ETFA)
- Glutaric acidemia IIB (ETFB)
- Glutaric acidemia IIC (ETFDH)
- Glycogen storage disease VII (PFKM)
- Glycogen storage disease X (PGAM2)
- Glycogen storage disease XI (LDHA)
- Glycogen storage disease XII (ALDOA)
- Glycogen storage disease XIII (ENO3)
- Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (FLAD1)
- McArdle disease (PGYM)
- Riboflavin deficiency (SLC52A1)
- VLCAD deficiency (ACADVL)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR und/oder Dig
- AR
- AR und/oder Dig
- AR und/oder Mult
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E88.8
Bioinformatik und klinische Interpretation
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