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Klinische FragestellungDysferlinopathie, Differentialdiagnose

Auftragsschein Klin. Fragestellung
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Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Dysferlinopathie mit 1 Leitlinien-kuratierten bzw. zusammen genommen 39 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
DP9254
Anzahl Loci
Locus-TypAnzahl
Gen 12
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
6,3 kb (Core-/Core-canditate-Gene)
136,4 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
DYSF6243NM_003494.4AR
ANO52742NM_213599.3AR
DMD11058NM_004006.3XLR
FKTN1386NM_001079802.2AR
GNE2262NM_001128227.3AR
LDB3852NM_001080116.1AD
MATR32544NM_199189.3AD
MYH75808NM_000257.4AD, AR
MYOT1497NM_006790.3AD
TCAP504NM_003673.4AR
TIA11161NM_022173.4AD, AR
TTN100272NM_001267550.2AR

Infos zur Erkrankung

Synonyme
  • Alias: Distale Myopathie des vorderen Kompartiments (DYSF)
  • Alias: Distale Myopathie mit Beginn am vorderen Schienenbein (DYSF)
  • Allelic: Bardet-Biedl syndrome 11 (TRIM32)
  • Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDDB3)
  • Allelic: Cardiomyopathy, dilated, 1G (TTN)
  • Allelic: Cardiomyopathy, dilated, 1L (SGCD)
  • Allelic: Cardiomyopathy, dilated, 1S (MYH7)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Cardiomyopathy, dilated, 3B (DMD)
  • Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Allelic: Cardiomyopathy, hypertrophic, 25 (TCAP)
  • Allelic: Dowling-Degos disease 4 (POGLUT1)
  • Allelic: Dystonia 27 (COL6A3)
  • Allelic: Epidermolysis bullosa simplex 5A, Ogna type (PLEC)
  • Allelic: Epidermolysis bullosa simplex 5B, with muscular dystrophy (PLEC)
  • Allelic: Epidermolysis bullosa simplex 5C, with pyloric atresia (PLEC)
  • Allelic: Epidermolysis bullosa simplex 5D, generalized intermediate, AR (PLEC)
  • Allelic: Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
  • Allelic: Epidermolysis bullosa simplex with pyloric atresia (PLEC)
  • Allelic: Epidermolysis bullosa simplex, Ogna type (PLEC)
  • Allelic: Gnathodiaphyseal dysplasia (ANO5)
  • Allelic: Left ventricular noncompaction 3 (LDB3)
  • Allelic: Left ventricular noncompaction 5 (MYH7)
  • Allelic: Miyoshi muscular dystrophy 1 (DYSF)
  • Allelic: Miyoshi muscular dystrophy 3 (ANO5)
  • Allelic: Miyoshi-Myopathie [Schwäche hinteres Kompartiment distale untere Extremität] (DYSF)
  • Allelic: Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Allelic: Muscular dystrophy, limb-girdle, AR 2 (DYSF)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 7 (CRPPA)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 8 (POMGNT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with/-out mental retard. type B, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy with brain + eye anomalies (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy without mental retardation (FKTN)
  • Allelic: Myopathy, distal, with anterior tibial onset (DYSF)
  • Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Allelic: Myosclerosis, congenital (COL6A2)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Allelic: Sialuria (GNE)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Amyotrophic lateral sclerosis 21 (MATR3)
  • Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
  • Becker muscular dystrophy (DMD)
  • Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
  • Duchenne muscular dystrophy (DMD)
  • Laing distal myopathy (MYH7)
  • Miyoshi muscular dystrophy 1 (DYSF)
  • Miyoshi muscular dystrophy 3 (ANO5)
  • Muscular dystrophy, AR, with cardiomyopathy + triangular tongue (LIMS2)
  • Muscular dystrophy, AR, with rigid spine + distal joint contractures (TORAIP1)
  • Muscular dystrophy, limb girdle, "LGMD2T" (DOK7)
  • Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
  • Muscular dystrophy, limb-girdle, AR 1 (CAPN3)
  • Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Muscular dystrophy, limb-girdle, AR 12 (ANO5)
  • Muscular dystrophy, limb-girdle, AR 17 (PLEC)
  • Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
  • Muscular dystrophy, limb-girdle, AR 2 (DYSF)
  • Muscular dystrophy, limb-girdle, AR 21 (POGLUT1)
  • Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
  • Muscular dystrophy, limb-girdle, AR 25 (BVES)
  • Muscular dystrophy, limb-girdle, AR 26 (POPDC3)
  • Muscular dystrophy, limb-girdle, AR 27 (JAG2)
  • Muscular dystrophy, limb-girdle, AR 3 (SGCA)
  • Muscular dystrophy, limb-girdle, AR 4 (SGCB)
  • Muscular dystrophy, limb-girdle, AR 5 (SGCG)
  • Muscular dystrophy, limb-girdle, AR 6 (SGCD)
  • Muscular dystrophy, limb-girdle, AR 7 (TCAP)
  • Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
  • Muscular dystrophy-dystroglycanopathy limb-girdle type C, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy limb-girdle type C, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy limb-girdle type C, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy limb-girdle type C, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy limb-girdle type C, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy limb-girdle type C, 7 (ISPD)
  • Muscular dystrophy-dystroglycanopathy limb-girdle type C, 8 (POMGNT2)
  • Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
  • Myopathy, distal, with anterior tibial onset (DYSF)
  • Myopathy, myofibrillar, 3 (MYOT)
  • Myopathy, myofibrillar, 4 (LDB3)
  • Myopathy, myofibrillar, 8 (PYROXD1)
  • Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Myopathy, myosin storage, AD + AR (MYH7)
  • Myopathy, spheroid body (MYOT)
  • Nonaka myopathy (GNE)
  • Salih myopathy (TTN)
  • Scapuloperoneal syndrome, myopathic type (MYH7)
  • Tibial muscular dystrophy, tardive (TTN)
  • Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
  • Welander distal myopathy (TIA1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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