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Klinische FragestellungHarnstoffzyklus-Störungen, Hyperammonämie; Differentialdiagnose

Zusammenfassung

Kurzinformation

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

ID
HP8989
Anzahl Gene
43 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,6 kb (Core-/Core-canditate-Gene)
71,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ACADM1266NM_000016.6AR
ACADVL1968NM_000018.4AR
ARG1969NM_000045.4AR
ASL1395NM_000048.4AR
ASS11239NM_000050.4AR
CPS14503NM_001122633.3AR
NAGS1605NM_153006.3AR
OAT1320NM_000274.4AR
OTC1065NM_000531.6XLR
SERAC11965NM_032861.4AR
SLC25A15906NM_014252.4AR
TMEM70324NM_001040613.3AR
ALDH18A12388NM_002860.4AR
AUH1020NM_001698.3AR
BCKDHA1338NM_000709.4AR
BCKDHB1179NM_000056.5AR
CA5A918NM_001739.2AR
CPT1A2322NM_001876.4AR
CPT21977NM_000098.3AR
DBT1449NM_001918.5AR
ETFA1002NM_000126.4AR
ETFB768NM_001985.3AR
ETFDH1854NM_004453.4AR
GALT1140NM_000155.4AR
GLUD11677NM_005271.5AD
HADHA2292NM_000182.5AR
HADHB1425NM_000183.3AR
HLCS2181NM_000411.8AR
HMGCL978NM_000191.3AR
IVD1182NM_001159508.3AR
MLYCD1482NM_012213.3AR
MMAA1257NM_172250.3AR
MMAB753NM_052845.4AR
MMUT2253NM_000255.4AR
PC3537NM_000920.4AR
PCCA2187NM_000282.4AR
PCCB1620NM_000532.5AR
POLG3720NM_002693.3AR
PYGM2529NM_005609.4AR
SLC22A51674NM_003060.4AR
SLC25A132031NM_001160210.2AR
SLC25A20906NM_000387.6AR
SLC7A71536NM_001126105.3AR

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
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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