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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessUrea cyle disorders, hyperammonemia; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Hyperammonemia comprising 7 core/guideline-curated and altogether 44 curated genes according to the clinical signs

ID
HP8989
Number of genes
42 Accredited laboratory test
Examined sequence length
18,6 kb (Core-/Core-canditate-Genes)
70,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ACADM1266AR
ACADVL1968AR
ARG1969AR
ASL1395AR
ASS11239AR
CPS14503AR
NAGS1605AR
OAT1320AR
OTC1065XLR
SERAC11965AR
SLC25A15906AR
TMEM70324AR
ALDH18A12388AR
AUH1020AR
BCKDHA1338AR
BCKDHB1179AR
CA5A918AR
CPT1A2322AR
CPT21977AR
DBT1449AR
ETFA1002AR
ETFB768AR
ETFDH1854AR
GLUD11677AD
HADHA2292AR
HADHB1425AR
HLCS2181AR
HMGCL978AR
IVD1182AR
MLYCD1482AR
MMAA1257AR
MMAB753AR
MMUT2253AR
PC3537AR
PCCA2187AR
PCCB1620AR
POLG3720AR
PYGM2529AR
SLC22A51674AR
SLC25A132031AR
SLC25A20906AR
SLC7A71536AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E72.2

Bioinformatics and clinical interpretation

No text defined