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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ETFA1002NM_000126.4AR
ETFB768NM_001985.3AR
ETFDH1854NM_004453.4AR
ACADVL1968NM_000018.4AR
ASL1395NM_000048.4AR
ASS11239NM_000050.4AR
CPS14503NM_001122633.3AR
CPT1A2322NM_001876.4AR
CPT21977NM_000098.3AR
FLAD12021NM_001184891.2AR
HADHA2292NM_000182.5AR
HADHB1425NM_000183.3AR
OTC1065NM_000531.6XLR
SLC22A51674NM_003060.4AR
SLC25A20906NM_000387.6AR
SLC52A11347NM_001104577.2AD
SLC52A21338NM_024531.5AR
SLC52A31410NM_033409.4AR

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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