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IllnessLysinuric protein intolerance, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Lysinuric protein intolerance comprising altogether 24 curated genes according to the clinical signs

ID
LP7115
Number of genes
24 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
44,5 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
SLC7A71536AR
ARG1969AR
ASL1395AR
ASS11239AR
CPS14503AR
GAA2859AR
GBA11611AR
GLB12034AR
GNS1659AR
HGSNAT1908AR
IDS1653XLR
IDUA1962AR
LIPA1200AR
MAN2B13036AR
NAGLU2232AR
NAGS1605AR
OTC1065XLR
PRF11668AR
SGSH1509AR
SLC25A132031AR
SLC25A15906AR
STX11864AR
STXBP21773AR
UNC13D3273AR

Informations about the disease

Synonyms
  • Allelic: Aplastic anemia (PRF1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
  • Allelic: Gaucher disease, perinatal lethal (GBA)
  • Allelic: Lymphoma, non-Hodgkin (PRF1)
  • Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
  • Allelic: Retinitis pigmentosa 73 (HGSNAT)
  • Argininemia (ARG1)
  • Argininosuccinic aciduria (ASL)
  • Carbamoylphosphate synthetase I deficiency (CPS1)
  • Cholesteryl ester storage disease (LIPA)
  • Citrullinemia (ASS1)
  • Citrullinemia, adult-onset type II (SLC25A13)
  • Citrullinemia, type II, neonatal-onset (SLC25A13)
  • GM1-gangliosidosis, type I, III, III (GLB1)
  • Gaucher disease, type I, II, III, IIIC (GBA)
  • Glycogen storage disease II (GAA)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
  • Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
  • Hemophagocytic lymphohistiocytosis, familial, 5, +/- microvillus inclusion disease (STXBP2)
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A15)
  • Lysinuric protein intolerance (SLC7A7)
  • Mannosidosis, alpha-, types I + II (MAN2B1)
  • Mucopolysaccharidosis II (IDS)
  • Mucopolysaccharidosis Ih, Ih/s, Is (IDUA)
  • Mucopolysaccharidosis type IIIA, Sanfilippo A (SGSSH)
  • Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
  • Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
  • Mucopolysaccharidosis type IIID (GNS)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • N-acetylglutamate synthase deficiency (NAGS)
  • Ornithine transcarbamylase deficiency (OTC)
  • Wolman disease (LIPA)
Heredity, heredity patterns etc.
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E72.3

Bioinformatics and clinical interpretation

No text defined