ErkrankungMukopolysaccharidosen, Differentialdiagnose II
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Mukopolysaccharidosen mit 20 kuratierten Genen je nach klinischer Verdachtsdiagnose
ID
MP0401
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,9 kb (Core-/Basis-Gene)
43,0 kb (Erweitertes Panel)
43,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ARSB | 1602 | AR | |
GALNS | 1569 | AR | |
GLB1 | 2034 | AR | |
GNPTAB | 3771 | AR | |
GNS | 1659 | AR | |
GUSB | 1956 | AR | |
HGSNAT | 1908 | AR | |
IDS | 1653 | XLR | |
IDUA | 1962 | AR | |
NAGLU | 2232 | AD und/oder AR | |
SGSH | 1509 | AR | |
COL2A1 | 4464 | AD | |
GNPTG | 918 | AR | |
HYAL1 | 1308 | AR | |
MAN2B1 | 3036 | AR | |
NEU1 | 1248 | AR | |
RAI1 | 5721 | AD | |
SMARCAL1 | 2865 | AR | |
SUMF1 | 1125 | AR | |
TRAPPC2 | 423 | XLR |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_MP0401
Synonyme
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Allelic: Retinitis pigmentosa 73 (HGSNAT)
- Combined SAP deficiency (PSAP)
- Fabry disease (GLA)
- Fabry disease, cardiac variant (GLA)
- GM1-gangliosidosis type I-III (GLB1)
- Gaucher disease, atypical (PSAP)
- Gaucher disease, perinatal lethal (GBA)
- Gaucher disease, type I, II, III, IIIC (GBA)
- Krabbe disease, atypical (PSAP)
- Mannosidosis, alpha-, types I + II (MAN2B1)
- Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
- Mucolipidosis II alpha/beta (GNPTAB)
- Mucolipidosis III alpha/beta (GNPTAB)
- Mucolipidosis IV (MCOLN1)
- Mucopolysaccharidosis type II, Hunter syndrome (IDS)
- Mucopolysaccharidosis type IIIA, Sanfilippo A (SGSH)
- Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
- Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
- Mucopolysaccharidosis type IIID, Sanfilippo syndrome D (GNS)
- Mucopolysaccharidosis type IVA (GALNS)
- Mucopolysaccharidosis type IVB, Morquio (GLB1)
- Mucopolysaccharidosis type IX (HYAL1)
- Mucopolysaccharidosis type Ih/s, Hurler-Scheie syndrome+ Is, Scheie syndrome (IDUA)
- Mucopolysaccharidosis type VI, Maroteaux-Lamy (ARSB)
- Mucopolysaccharidosis type VII, Sly syndrome (GUSB)
- Mucopolysaccharidosis type X (ARSK)
- Mucopolysaccharidosis-plus syndrome (VPS33A)
- Multiple sulfatase deficiency (SUMF1)
- Osteoarthritis with mild chondrodysplasia (COL2A1)
- Schimke immunoosseous dysplasia (SMARCAL1)
- Sialidosis, type I (NEU1)
- Sialidosis, type II (NEU1)
- Smith-Magenis syndrome (RAI1)
- Spondyloepiphyseal dysplasia tarda (TRAPPC2)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E76.3
Bioinformatik und klinische Interpretation
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