ErkrankungFukuyama kongenitale Muskeldystrophie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Fukuyama kongenitale Muskeldystrophie, Differentialdiagnose mit zusammen genommen 16 kuratierten Genen gemäß klinischem Verdacht
ID
FP9438
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,4 kb (Core-/Basis-Gene)
22,4 kb (Erweitertes Panel)
22,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Synonyme
- Allelic: Cardiomyopathy, dilated, 1A (LMNA)
- Allelic: Cardiomyopathy, dilated, 1X (FKTN)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Dilated cardiomyopathy (FKTN)
- Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Limb-girdle muscular dystrophy type 2M (FKTN)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Malouf syndrome (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 12 (POMK)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 14 (GMPPB)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 4 (FKTN)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 7 (CRPPA)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 8 (POMGNT2)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 9 (DAG1)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Walker-Warburg syndrome (FKTN)
- Muscular dystrophy, congenital (FKTN)
- Muscular dystrophy, rigid spine, 1 (SELENON)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 10 (RXYLT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 11 (B3GALNT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 12 (POMK)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 13 (B4GAT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 7 (CRPPA)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 8 (POMGNT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 9 (DAG1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy [cong. with/-out mental retardation], type B, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy [cong. without mental retardation], type B, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
- Myopathy, congenital, with fiber-type disproportion (SELENON)
Erbgänge, Vererbungsmuster etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G71.-
Bioinformatik und klinische Interpretation
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