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ErkrankungHarnstoffzyklus-Störungen, Hyperammonämie; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Harnstoffzyklus-Störungen mit 7 "core"-/Leitlinien-kuratierten Genen sowie insgesamt 44 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
HP8989
Anzahl Gene
42 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,6 kb (Core-/Basis-Gene)
70,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACADM1266AR
ACADVL1968AR
ARG1969AR
ASL1395AR
ASS11239AR
CPS14503AR
NAGS1605AR
OAT1320AR
OTC1065XLR
SERAC11965AR
SLC25A15906AR
TMEM70324AR
ALDH18A12388AD und/oder AR
AUH1020AR
BCKDHA1338AR
BCKDHB1179AR
CA5A918AR
CPT1A2322AR
CPT21977AD und/oder AR und/oder Dig
DBT1449AR
ETFA1002AR
ETFB768AR
ETFDH1854AR
GLUD11677AD
HADHA2292AR
HADHB1425AR
HLCS2181AR
HMGCL978AR
IVD1182AR
MLYCD1482AR
MMAA1257AR
MMAB753AR
MMUT2253AR
PC3537AR
PCCA2187AR
PCCB1620AR
POLG3720AD und/oder AR
PYGM2529AR und/oder Dig
SLC22A51674AR und/oder Mult
SLC25A132031AR
SLC25A20906AR
SLC7A71536AR

Infos zur Erkrankung

Synonyme
  • Alias: Hyperammonemia
  • Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
  • Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
  • 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
  • 3-methylglutaconic aciduria, type I (AUH)
  • Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
  • Argininemia (ARG1)
  • Argininosuccinic aciduria (ASL)
  • 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)
  • Citrullinemia, adult-onset type II (SLC25A13)Citrullinemia, type II, neonatal-onset (SLC25A13)
  • Cutis laxa, AD 3 (ALDH18A1)
  • Cutis laxa, AR, type IIIA (ALDH18A1)
  • Fatty liver, acute, of pregnancy (HADHA)
  • Galactosemia (GALT)
  • Glutaric acidemia IIA (ETFA)
  • Glutaric acidemia IIB (ETFB)
  • Glutaric acidemia IIC (ETFDH)
  • Gyrate atrophy of choroid and retina with or without ornithinemia (OAT)
  • HELLP syndrome, maternal, of pregnancy (HADHA)
  • HMG-CoA lyase deficiency (HMGCL)
  • Holocarboxylase synthetase deficiency (HLCS)
  • Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
  • Hyperinsulinism-hyperammonemia syndrome (GLUD1)
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A15)
  • Isovaleric acidemia (IVD)
  • LCHAD deficiency (HADHA)
  • Lysinuric protein intolerance (SLC7A7)
  • Malonyl-CoA decarboxylase deficiency (MLYCD)
  • Maple syrup urine disease, type II (DBT)
  • Maple syrup urine disease, type Ia (BCKDHA)
  • Maple syrup urine disease, type Ib (BCKDHB)
  • McArdle disease (PYGM)
  • Methylmalonic aciduria, mut(0) type (MMUT)
  • Methylmalonic aciduria, vitamin B12-responsive, cblA type (MMAA)
  • Methylmalonic aciduria, vitamin B12-responsive, cblB type (MMAB)
  • Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
  • Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)
  • Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Mitochondrial trifunctional protein deficiency (HADHA)
  • N-acetylglutamate synthase deficiency (NAGS)
  • Ornithine transcarbamylase deficiency (OTC)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Progressive external ophthalmoplegia, AR 1 (POLG)
  • Propionicacidemia (PCCA, PCCB)
  • Pyruvate carboxylase deficiency (PC)
  • Spastic paraplegia 9A, AD (ALDH18A1)
  • Spastic paraplegia 9B, AR ALD18A1)
  • Trifunctional protein deficiency (HADHB)
  • Tyrosinemia, type I (FAH)
  • VLCAD deficiency (ACADVL)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AR
  • AR und/oder Dig
  • AR und/oder Mult
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E72.2

Bioinformatik und klinische Interpretation

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