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Klinische FragestellungFukuyama kongenitale Muskeldystrophie, Differentialdiagnose

Auftragsschein Klin. Fragestellung
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Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Fukuyama kongenitale Muskeldystrophie, Differentialdiagnose mit zusammen genommen 16 Leitlinien-kuratierten Genen gemäß klinischem Verdacht

ID
FP9438
Anzahl Loci
Locus-TypAnzahl
Gen 15
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,4 kb (Core-/Core-canditate-Gene)
26,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Loci

Gen

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
FKTN1386NM_001079802.2AR
B3GALNT21503NM_152490.5AR
B4GAT11248NM_006876.3AR
CRPPA1356NM_001101426.4AR
DAG12688NM_004393.6AR
FKRP1488NM_024301.5AR
GMPPB1164NM_013334.4AR
LARGE12271NM_004737.7AR
LMNA1995NM_170707.4AD, AR
POMGNT11983NM_017739.4AR
POMGNT21743NM_032806.6AR
POMK1053NM_032237.5AR
POMT12244NM_007171.4AR
POMT22253NM_013382.7AR
SELENON1773NM_020451.3AR

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.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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