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ErkrankungMultipler Acyl-CoA Dehydrogenase Mangel, neonatal; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Multipler Acyl-CoA Dehydrogenase Mangel, neonatal mit 3 bzw. zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP3330
Anzahl Gene
18 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,7 kb (Core-/Basis-Gene)
30,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ETFA1002AR
ETFB768AR
ETFDH1854AR
ACADVL1968AR
ASL1395AR
ASS11239AR
CPS14503AR
CPT1A2322AR
CPT21977AD und/oder AR und/oder Dig
FLAD12021AR
HADHA2292AR
HADHB1425AR
OTC1065XLR
SLC22A51674AR und/oder Mult
SLC25A20906AR
SLC52A11347AD
SLC52A21338AR
SLC52A31410AR

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
  • AD und/oder AR und/oder Dig
  • AR
  • AR und/oder Mult
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E88.8

Bioinformatik und klinische Interpretation

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