English
Klinische FragestellungCarnitin-Palmitoyl-Transferase IA-Mangel, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Carnitin-Palmitoyl-Transferase IA-Mangel mit 7 Leitlinien-kuratierten und zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP9238
Anzahl Gene
18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
10,9 kb (Core-/Core-canditate-Gene)
26,4 kb (Erweitertes Panel: inkl. additional genes)
26,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ACADVL | 1968 | NM_000018.4 | AR | |
| CPT1A | 2322 | NM_001876.4 | AR | |
| CPT2 | 1977 | NM_000098.3 | AD, AR | |
| HADHA | 2292 | NM_000182.5 | AR | |
| HADHB | 1425 | NM_000183.3 | AR | |
| SLC25A20 | 906 | NM_000387.6 | AR | |
| ACADM | 1266 | NM_000016.6 | AR | |
| G6PC1 | 1074 | NM_000151.4 | AR | |
| HMGCL | 978 | NM_000191.3 | AR | |
| HMGCS2 | 1401 | NM_001166107.1 | AR | |
| MCEE | 531 | NM_032601.4 | AR | |
| MMAA | 1257 | NM_172250.3 | AR | |
| MMAB | 753 | NM_052845.4 | AR | |
| MMADHC | 891 | NM_015702.3 | AR | |
| MMUT | 2253 | NM_000255.4 | AR | |
| PCCA | 2187 | NM_000282.4 | AR | |
| PCCB | 1620 | NM_000532.5 | AR | |
| SLC37A4 | 1291 | NM_001164277.2 | AR |
Infos zur Erkrankung
Synonyme
- Alias: CPT1A Deficiency
- Alias: Carnitin-Palmitoyl-Transferase I-Mangel, hepatischer
- Alias: Hepatic Carnitine Palmitoyltransferase 1 Deficiency
- Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
- 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-acylcarnitine translocase deficiency (SLC25A20)
- Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
- Fatty liver, acute, of pregnancy (HADHA)
- Glycogen storage disease Ia (G6PC1)
- Glycogen storage disease Ib + Ic (SLC37A4)
- HELLP syndrome, maternal, of pregnancy (HADHA)
- HMG-CoA lyase deficiency (HMGCL)
- HMG-CoA synthase-2 deficiency (HMGCS2)
- Homocystinuria, cblD type, variant 1 (MMADHC)
- LCHAD deficiency (HADHA)
- Methylmalonic aciduria and homocystinuria, cblD type (MMADHC)
- Methylmalonic aciduria, cblD type, variant 2 (MMADHC)
- Methylmalonic aciduria, mut(0) type (MMUT)
- Methylmalonic aciduria, vitamin B12-responsive, cblB type (MMAB)
- Methylmalonyl-CoA epimerase deficiency (MCEE)
- Mitochondrial trifunctional protein deficiency (HADHA)
- Propionicacidemia (PCCA, PCCB)
- Trifunctional protein deficiency (HADHB)
- VLCAD deficiency (ACADVL)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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