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ErkrankungKardiomyopathie, hypertrophe; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für hypertrophe Kardiomyopathie mit 11 bzw. 34 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP1030
Anzahl Gene
21 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,1 kb (Core-/Basis-Gene)
44,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTC11134AD
CSRP3585AD
GLA1290XL und/oder Mult
JPH22091AD
LAMP21233XLD
MYBPC33825AD und/oder Dig
MYH75808AD und/oder AR und/oder Dig
MYL2501AD
MYL3588AD und/oder AR
PRKAG21710AD
TNNC1486AD
TNNI3633AD und/oder AR
TNNT2867AD
TPM1855AD
TTR444AD
ACTN22685AD
CACNA1C6417AD
FHL1843XL
FHOD34320AD
FLNC8178AD
PLN159AD

Infos zur Erkrankung

Klinischer Kommentar

Zustand, bei dem ein Teil des Herzens ohne offensichtliche Ursache verdickt ist, so dass das Herz weniger in der Lage ist, Blut effektiv zu pumpen; zu den Komplikationen gehören Herzinsuffizienz, ein unregelmäßiger Herzschlag, plötzlicher Herztod

 

Synonyme
  • Alias: Hypertrophic cardiomyopathy (HCM)
  • Allelic Cardiomyopathy, familial restrictive, 3 (TNNT2)
  • Allelic: Amyloidosis, hereditary, transthyretin-related (TTR)
  • Allelic: Atrial septal defect 5 (ACTC1)
  • Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
  • Allelic: Cardiomyopathy, dilated, 1D (TNNT2)
  • Allelic: Cardiomyopathy, dilated, 1FF (TNNI3)
  • Allelic: Cardiomyopathy, dilated, 1M (CSRP3)
  • Allelic: Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Allelic: Cardiomyopathy, dilated, 1P (PLN)
  • Allelic: Cardiomyopathy, dilated, 1R (ACTC1)
  • Allelic: Cardiomyopathy, dilated, 1S (MYH7)
  • Allelic: Cardiomyopathy, dilated, 1Y (TPM1)
  • Allelic: Cardiomyopathy, dilated, 1Z (TNNC1)
  • Allelic: Cardiomyopathy, dilated, 2A (TNNI3)
  • Allelic: Cardiomyopathy, familial restrictive, 1 (TNNI3)
  • Allelic: Carpal tunnel syndrome, familial (TTR)
  • Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
  • Allelic: Fabry disease (GLA)
  • Allelic: Glycogen storage disease of heart, lethal congenital (PRKAG2)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Left ventricular noncompaction 10 (MYBPC3)
  • Allelic: Left ventricular noncompaction 4 (ACTC1)
  • Allelic: Left ventricular noncompaction 5 (MYH7)
  • Allelic: Left ventricular noncompaction 6 (TNNT2)
  • Allelic: Left ventricular noncompaction 9 (TPM1)
  • Allelic: Muscular dystrophy, limb-girdle, AR (TCAP)
  • Allelic: Myopathy, congenital, structured cores + Z-line abnormalities (ACTN2)
  • Allelic: Myopathy, distal, 6, adult onset (ACTN2)
  • Allelic: Myopathy, myosin storage, AD (MYH7)
  • Allelic: Myopathy, myosin storage, AR (MYH7)
  • Allelic: Restrictive cardiomyopathy [MONDO:000520, panelapp] (TRIM63)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Wolff-Parkinson-White syndrome (PRKAG2)
  • Cardiomyopathies + heart failure (ANKD1)
  • Cardiomyopathy, familial hypertrophic (CAV3)
  • Cardiomyopathy, familial hypertrophic 27 (ALPK3)
  • Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 1, digenic (MYLK2)
  • Cardiomyopathy, hypertrophic, 10 (MYL2)
  • Cardiomyopathy, hypertrophic, 11 (ACTC1)
  • Cardiomyopathy, hypertrophic, 12 (CSRP3)
  • Cardiomyopathy, hypertrophic, 13 (TNNC1)
  • Cardiomyopathy, hypertrophic, 14 (MYH6)
  • Cardiomyopathy, hypertrophic, 15 (VCL)
  • Cardiomyopathy, hypertrophic, 16 (MYOZ2)
  • Cardiomyopathy, hypertrophic, 17 (JPH2)
  • Cardiomyopathy, hypertrophic, 18 (PLN)
  • Cardiomyopathy, hypertrophic, 2 (TNNT2)
  • Cardiomyopathy, hypertrophic, 20 (NEXN)
  • Cardiomyopathy, hypertrophic, 22 (MYPN)
  • Cardiomyopathy, hypertrophic, 23, with/-out LVNC (ACTN2)
  • Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Cardiomyopathy, hypertrophic, 25 (TCAP)
  • Cardiomyopathy, hypertrophic, 3 (TPM1)
  • Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Cardiomyopathy, hypertrophic, 6 (PRKAG2)
  • Cardiomyopathy, hypertrophic, 7 (TNNI3)
  • Cardiomyopathy, hypertrophic, 8 (MYL3)
  • Cardiomyopathy, hypertrophic, 9 (TTN)
  • Danon disease (LAMP2)
  • Fabry disease, cardiac variant (GLA)
  • Hypertrophic cardiomyopathy [MONDO:0005045, panelapp] (TRIM63)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder Dig
  • XL
  • XL und/oder Mult
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I42.2

Bioinformatik und klinische Interpretation

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