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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
FKTN1386AR
B3GALNT21503AR
B4GAT11248AR
CRPPA1356AR
DAG12688AR
FKRP1488AR
GMPPB1164AR
LARGE12271AR
POMGNT11983AR
POMGNT21743AR
POMK1053AR
POMT12244AR
POMT22253AR

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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