©istock.com/Andrea Obzerova
Unsere KompetenzInterdisziplinäre Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patientinnen und Patienten.

Klinische FragestellungDysferlinopathie, Differentialdiagnose

Auftragsschein Klin. Fragestellung
Versandmaterial bestellen

Zusammenfassung

Kurzinformation

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

ID
DP9254
Anzahl Gene
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 +

 

Genpanel

Ausgewählte Gene

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

Kein Text hinterlegt