English
Klinische FragestellungMultipler Acyl-CoA-Dehydrogenase-Mangel, neonatal; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Multipler Acyl-CoA Dehydrogenase Mangel, neonatal mit 3 "core candidate"-Genen bzw. zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP3330
Anzahl Gene
18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,7 kb (Core-/Core-canditate-Gene)
30,6 kb (Erweitertes Panel: inkl. additional genes)
30,6 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 |
|---|---|---|---|---|
| ETFA | 1002 | NM_000126.4 | AR | |
| ETFB | 768 | NM_001985.3 | AR | |
| ETFDH | 1854 | NM_004453.4 | AR | |
| ACADVL | 1968 | NM_000018.4 | AR | |
| ASL | 1395 | NM_000048.4 | AR | |
| ASS1 | 1239 | NM_000050.4 | AR | |
| CPS1 | 4503 | NM_001122633.3 | AR | |
| CPT1A | 2322 | NM_001876.4 | AR | |
| CPT2 | 1977 | NM_000098.3 | AR | |
| FLAD1 | 2021 | NM_001184891.2 | AR | |
| HADHA | 2292 | NM_000182.5 | AR | |
| HADHB | 1425 | NM_000183.3 | AR | |
| OTC | 1065 | NM_000531.6 | XLR | |
| SLC22A5 | 1674 | NM_003060.4 | AR | |
| SLC25A20 | 906 | NM_000387.6 | AR | |
| SLC52A1 | 1347 | NM_001104577.2 | AD | |
| SLC52A2 | 1338 | NM_024531.5 | AR | |
| SLC52A3 | 1410 | NM_033409.4 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Glutaric aciduria type 2, severe neonatal type
- Alias: Multiple Acyl-CoA Dehydrogenase Deficiency, severe neonatal type
- Alias: Multiple Acyl-CoA Dehydrogenase deficiency, severe neonatal type
- Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
- Allelic: Fatty liver, acute, of pregnancy (HADHA)
- Allelic: HELLP syndrome, maternal, of pregnancy (HADHA)
- Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
- Argininosuccinic aciduria (ASL)
- Brown-Vialetto-Van Laere syndrome 1 (SLC26A3)
- Brown-Vialetto-Van Laere syndrome 2 (SLC25A2)
- CPT II deficiency, infantile (CPT2)
- CPT II deficiency, lethal neonatal (CPT2)
- CPT II deficiency, myopathic, stress-induced (CPT2)
- CPT deficiency, hepatic, type IA (CPT1A)
- Carbamoylphosphate synthetase I deficiency (CPS1)
- Carnitine deficiency, systemic primary (SLC22A5)
- Carnitine-acylcarnitine translocase deficiency (SLC25A20)
- Citrullinemia (ASS1)
- Fazio-Londe disease (SLC25A3)
- Glutaric acidemia IIA (ETFA)
- Glutaric acidemia IIB (ETFB)
- Glutaric acidemia IIC (ETFDH)
- LCHAD deficiency (HADHA)
- Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (FLAD1)
- Mitochondrial trifunctional protein deficiency (HADHA)
- Ornithine transcarbamylase deficiency (OTC)
- Riboflavin deficiency (SLC25A1)
- Trifunctional protein deficiency (HADHB)
- VLCAD deficiency (ACADVL)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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