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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 loci
Locus typeCount
Gen 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
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SLC7A71536NM_001126105.3AR
ARG1969NM_000045.4AR
ASL1395NM_000048.4AR
ASS11239NM_000050.4AR
CPS14503NM_001122633.3AR
GAA2859NM_000152.5AR
GBA11611NM_001005741.3AR
GLB12034NM_000404.4AR
GNS1659NM_002076.4AR
HGSNAT1908NM_152419.3AR
IDS1653NM_000202.8XLR
IDUA1962NM_000203.5AR
LIPA1200NM_000235.4AR
MAN2B13036NM_000528.4AR
NAGLU2232NM_000263.4AR
NAGS1605NM_153006.3AR
OTC1065NM_000531.6XLR
PRF11668NM_001083116.3AR
SGSH1509NM_000199.5AR
SLC25A132031NM_001160210.2AR
SLC25A15906NM_014252.4AR
STX11864NM_003764.4AR
STXBP21773NM_006949.4AR
UNC13D3273NM_199242.3AR

Informations about the disease

Synonyms
  • Alias: Aminoazidurie, hyperdibasische, Typ 2 (SLC7A7)
  • 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

Bioinformatics and clinical interpretation

No text defined