English
Klinische FragestellungLysinurische Protein-Intoleranz, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Lysinurische Protein-Intoleranz, Differentialdiagnose, mit insgeamt 24 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP7115
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 24 |
Untersuchte Sequenzlänge
1,6 kb (Core-/Core-canditate-Gene)
44,5 kb (Erweitertes Panel: inkl. additional genes)
44,5 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| SLC7A7 | 1536 | NM_001126105.3 | AR | |
| ARG1 | 969 | NM_000045.4 | AR | |
| ASL | 1395 | NM_000048.4 | AR | |
| ASS1 | 1239 | NM_000050.4 | AR | |
| CPS1 | 4503 | NM_001122633.3 | AR | |
| GAA | 2859 | NM_000152.5 | AR | |
| GBA1 | 1611 | NM_001005741.3 | AR | |
| GLB1 | 2034 | NM_000404.4 | AR | |
| GNS | 1659 | NM_002076.4 | AR | |
| HGSNAT | 1908 | NM_152419.3 | AR | |
| IDS | 1653 | NM_000202.8 | XLR | |
| IDUA | 1962 | NM_000203.5 | AR | |
| LIPA | 1200 | NM_000235.4 | AR | |
| MAN2B1 | 3036 | NM_000528.4 | AR | |
| NAGLU | 2232 | NM_000263.4 | AR | |
| NAGS | 1605 | NM_153006.3 | AR | |
| OTC | 1065 | NM_000531.6 | XLR | |
| PRF1 | 1668 | NM_001083116.3 | AR | |
| SGSH | 1509 | NM_000199.5 | AR | |
| SLC25A13 | 2031 | NM_001160210.2 | AR | |
| SLC25A15 | 906 | NM_014252.4 | AR | |
| STX11 | 864 | NM_003764.4 | AR | |
| STXBP2 | 1773 | NM_006949.4 | AR | |
| UNC13D | 3273 | NM_199242.3 | AR |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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