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ErkrankungKardiomyopathie, restriktive; Differentialdiagnose

Zusammenfassung

Kurzinformation

RP0922_KI

ID
RP0922
Anzahl Gene
25 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
13,7 kb (Core-/Basis-Gene)
56,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

RP0922_DH

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
FLNC8178AD
MYPN3963AD
TNNI3633AD und/oder AR
TNNT2867AD
ABCC64512AD und/oder AR und/oder Dig und/oder Mult
ABCC94650AD und/oder Dig
ACTC11134AD
BAG31728AD
BMP51365n.k.
BMP71296AD
CRYAB528AD
DES1413AD und/oder AR
DNAJB6981AD
FHL1843XL
KIF20A2691AR
LDB3852AD
MYBPC33825AD und/oder Dig
MYH65820AD und/oder Sus
MYH75808AD und/oder AR und/oder Dig
MYL3588AD und/oder AR
MYOT1497AD
TAFAZZIN879XLR
TNNC1486AD
TPM1855AD
TRIM631062AD

Infos zur Erkrankung

Synonyme
  • Allelic: Arterial calcification, generalized, of infancy, 2 (ABCC6)
  • Allelic: Atrial fibrillation, familial, 12 (ABCC9)
  • Allelic: Atrial septal defect 3 (MYH6)
  • Allelic: Atrial septal defect 5 (ACTC1)
  • Allelic: Cataract 16, multiple types (CRYAB)
  • Allelic: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
  • Allelic: Intellectual disability + myopathy syndrome (ABCC9)
  • Allelic: Laing distal myopathy(MYH7)
  • Allelic: Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability (BMP7)
  • Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
  • Allelic: Myopathy, distal, 4 (FLNC)
  • Allelic: Myopathy, myofibrillar, 1 (DES)
  • Allelic: Myopathy, myofibrillar, 2 (CRYAB)
  • Allelic: Myopathy, myofibrillar, 3 (MYOT)
  • Allelic: Myopathy, myofibrillar, 4 (LDB3)
  • Allelic: Myopathy, myofibrillar, 5 (FLNC)
  • Allelic: Myopathy, myofibrillar, 6 (BAG3)
  • Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
  • Allelic: Myopathy, myosin storage, AD (MYH7)
  • Allelic: Myopathy, myosin storage, AR (MYH7)
  • Allelic: Myopathy, spheroid body (MYOT)
  • Allelic: Nemaline myopathy 11, AR (MYPN)
  • Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
  • Allelic: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
  • Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
  • Allelic: Scapuloperoneal myopathy, XLD (FHL1)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Sick sinus syndrome 3 (MYH6)
  • Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
  • Barth syndrome (TAFAZZIN)
  • Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Cardiomyopathy, dilated, 1D (TNNT2)
  • Cardiomyopathy, dilated, 1EE (MYH6)
  • Cardiomyopathy, dilated, 1FF (TNNI3)
  • Cardiomyopathy, dilated, 1HH (BAG3)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, dilated, 1II (CRYAB)
  • Cardiomyopathy, dilated, 1KK (MYPN)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 1O (ABCC9)
  • Cardiomyopathy, dilated, 1R (ACTC1)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 1Y (TPM1)
  • Cardiomyopathy, dilated, 1Z (TNNC1)
  • Cardiomyopathy, dilated, 2A (TNNI3)
  • Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Cardiomyopathy, familial restrictive, 1 (TNNI3)
  • Cardiomyopathy, familial restrictive, 3 (TNNT2)
  • Cardiomyopathy, familial restrictive, 4 (MYPN)
  • Cardiomyopathy, familial restrictive, 5 (FLNC)
  • Cardiomyopathy, familial restrictive, 6 (KIF20A)
  • Cardiomyopathy, hypertrophic [MONDO:0005045, panelapp] (TRIM63)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 11 (ACTC1)
  • Cardiomyopathy, hypertrophic, 13 (TNNC1)
  • Cardiomyopathy, hypertrophic, 14 (MYH6)
  • Cardiomyopathy, hypertrophic, 2 (TNNT2)
  • Cardiomyopathy, hypertrophic, 22 (MYPN)
  • Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Cardiomyopathy, hypertrophic, 3 (TPM1)
  • Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Cardiomyopathy, hypertrophic, 7 (TNNI3)
  • Cardiomyopathy, hypertrophic, 8 (MYL3)
  • Cardiomyopathy, restrictive [MONDO:0005201, panelapp] (TRIM63)
  • Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
  • Left ventricular noncompaction 10 (MYBPC3)
  • Left ventricular noncompaction 3 (LDB3)
  • Left ventricular noncompaction 4 (ACTC1)
  • Left ventricular noncompaction 5 (MYH7)
  • Left ventricular noncompaction 6 (TNNT2)
  • Left ventricular noncompaction 9 (TPM1)
  • Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
  • Pseudoxanthoma elasticum (ABCC6)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Dig und/oder Mult
  • AD und/oder Dig
  • AD und/oder Sus
  • AR
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I42.5

Bioinformatik und klinische Interpretation

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