Klinische FragestellungMukolipidosen, Differentialdiagnosen
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Mukolipidosen mit 4 bzw. insgesamt 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP0100
Anzahl Gene
4
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,7 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen
Synonyme
- Alias: Achondrogenesis, Langer-Saldino type (COL2A1)
- Alias: Hypochondrogenesis (COL2A1)
- Alias: Infantile sialidosis, formerly called sialidosis II or mucolipidosis I
- Alias: Mucolipidosis III, complementation group C
- Alias: Sialolipidosis, type I + II
- Allelic: Avascular necrosis of the femoral head (COL2A1)
- Allelic: Carpal tunnel syndrome 2 (COMP)
- Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
- Allelic: Osteoarthritis susceptibility 2 (MATN)
- Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
- Achondrogenesis Ib (SLC26A2)
- Achondrogenesis type II or hypochondrogenesis (COL2A1)
- Atelosteogenesis, type II (SLC26A2)
- Czech dysplasia (COL2A1)
- De la Chapelle dysplasia (SLC26A2)
- Diastrophic dysplasia (SLC26A2)
- Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
- Epiphyseal dysplasia, multiple, 1 (COMP)
- Epiphyseal dysplasia, multiple, 2 (COL9A2)
- Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
- Epiphyseal dysplasia, multiple, 4 (SLC26A2)
- Epiphyseal dysplasia, multiple, 5 (MATN)
- Epiphyseal dysplasia, multiple, 6 (COL9A1)
- Epiphyseal dysplasia, multiple, myopia + deafness (COL2A1)
- GM1-gangliosidosis, type I, II, III (GLB1)
- Galactosialidosis (CTSA)
- Kniest dysplasia (COL2A1)
- Legg-Calve-Perthes disease (COL2A1)
- Mannosidosis, alpha-, types I + II (MAN2B1)
- Mucolipidosis II alpha/beta + III alpha/beta (GNPTAB)
- Mucolipidosis III gamma (GNPTG)
- Mucolipidosis III, [Iranian] variant form (GNPTG)
- Mucolipidosis IV (MCOLN1)
- Mucopolysaccharidosis II (IDS)
- Mucopolysaccharidosis IVA (GALNS)
- Mucopolysaccharidosis IVB, Morquio (GLB1)
- Mucopolysaccharidosis Ih (IDUA)
- Mucopolysaccharidosis Ih/s (IDUA)
- Mucopolysaccharidosis Is (IDUA)
- Mucopolysaccharidosis VI, Maroteaux-Lamy (ARSB)
- Mucopolysaccharidosis VII (GUSB)
- Multiple sulfatase deficiency (SUMF1)
- Osteoarthritis with mild chondrodysplasia (COL2A1)
- Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
- Progressive pseudorheumatoid dysplasia (CCN6)
- Pseudoachondroplasia (COMP)
- SED congenita (COL2A1)
- SMED Strudwick type (COL2A1)
- Salla disease (SLC17A5)
- Sialic acid storage disorder, infantile (SLC17A5)
- Sialidosis, type I + II (NEU1)
- Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MATN)
- Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
- Spondyloperipheral dysplasia (COL2A1)
- Stickler syndrome, type I (COL2A1)
- Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
- Stickler syndrome, type IV (COL9A1)
- Stickler syndrome, type V (COL9A2)
Erbgänge, Vererbungsmuster etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E88.8
Bioinformatik und klinische Interpretation
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