©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungTibiale Muskeldystrophie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Tibiale Muskeldystrophie (Udd) mit 5 bzw. zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
TP5551
Anzahl Gene
14 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,5 kb (Core-/Basis-Gene)
39,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTN22685AD
DYSF6243AR
FLNC8178AD
SQSTM11323AD und/oder AR
ANO52742AD und/oder AR
CRYAB528AD
DES1413AD und/oder AR
GNE2262AD und/oder AR
LDB3852AD
MATR32544AD
MYH75808AD und/oder AR und/oder Dig
MYOT1497AD
TIA11161AD und/oder AR
VCP2421AD

Infos zur Erkrankung

Synonyme
  • Alias: Distal anoctaminopathy (ANO5)
  • Alias: Tibial Muscular Dystrophy
  • Alias: Udd Distal Myopathy
  • Allelic: Bosma arhinia microphthalmia syndrome (SMCHD1)
  • Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
  • Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Allelic: Cardiomyopathy, dilated, 1G (TTN)
  • Allelic: Cardiomyopathy, dilated, 1I (DES)
  • Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
  • Allelic: Cardiomyopathy, dilated, 1S (MYH7)
  • Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
  • Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
  • Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Allelic: Cardiomyopathy, hypertrophic, 23, with/-out LVNC (ACTN2)
  • Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Allelic: Cataract 16, multiple types (CRYAB)
  • Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
  • Allelic: Gnathodiaphyseal dysplasia (ANO5)
  • Allelic: Left ventricular noncompaction 3 (LDB3)
  • Allelic: Left ventricular noncompaction 5 (MYH7)
  • Allelic: Long QT syndrome 9 (CAV3)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Allelic: Muscular dystrophy, limb-girdle, AR 12 (ANO5)
  • Allelic: Muscular dystrophy, limb-girdle, AR 2 (DYSF)
  • Allelic: Myopathy, congenital with structured cores + Z-line abnormalities (ACTN2)
  • Allelic: Myopathy, myofibrillar, 5 (FLNC)
  • Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Allelic: Myopathy, myosin storage, AR (MYH7)
  • Allelic: Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
  • Allelic: Paget disease of bone 3 (SQSTM1)
  • Allelic: Rippling muscle disease 2 (CAV3)
  • Allelic: Salih myopathy (TTN)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Sialuria (GNE)
  • Amyotrophic lateral sclerosis 21 (MATR3)
  • Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
  • Creatine phosphokinase, elevated serum (CAV3)
  • Facioscapulohumeral muscular dystrophy 1 + 2 (DUX4 macrosatellite contractions)
  • Fascioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
  • Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Laing distal myopathy (MYH7)
  • Miyoshi muscular dystrophy 1 (DYSF)
  • Miyoshi muscular dystrophy 3 (ANO5)
  • Myopathy, distal, 4 (FLNC)
  • Myopathy, distal, 6, adult onset (ACTN2)
  • Myopathy, distal, Tateyama type (CAV3)
  • Myopathy, distal, with anterior tibial onset (DYSF)
  • Myopathy, distal, with rimmed vacuoles (SQSTM1)
  • Myopathy, myofibrillar, 1 (DES)
  • Myopathy, myofibrillar, 2 (CRYAB)
  • Myopathy, myofibrillar, 3 (MYOT)
  • Myopathy, myofibrillar, 4 (LDB3)
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
  • Myopathy, spheroid body (MYOT)
  • Nemaline myopathy 2, AR (NEB)
  • Nonaka myopathy (GNE)
  • Tibial muscular dystrophy, tardive (TTN)
  • Welander distal myopathy (TIA1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G71.0

Bioinformatik und klinische Interpretation

Kein Text hinterlegt