Klinische FragestellungKardiomyopathie, hypertrophe; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Hypertrophe Kardiomyopathie mit 8 "core"-Genen bzw. insgesamt 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP1030
Anzahl Gene
21
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,1 kb (Core-/Core-canditate-Gene)
44,7 kb (Erweitertes Panel: inkl. additional genes)
44,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ACTC1 | 1134 | NM_005159.5 | AD | |
CSRP3 | 585 | NM_003476.5 | AD | |
GLA | 1290 | NM_000169.3 | XL | |
JPH2 | 2091 | NM_020433.5 | AD | |
LAMP2 | 1233 | NM_002294.3 | XL | |
MYBPC3 | 3825 | NM_000256.3 | AD, AR | |
MYH7 | 5808 | NM_000257.4 | AD, digenisch | |
MYL2 | 501 | NM_000432.4 | AD | |
MYL3 | 588 | NM_000258.3 | AD, AR | |
PRKAG2 | 1710 | NM_016203.4 | AD | |
TNNC1 | 486 | NM_003280.3 | AD | |
TNNI3 | 633 | NM_000363.5 | AD, AR | |
TNNT2 | 867 | NM_001001430.3 | AD | |
TPM1 | 855 | NM_001018005.2 | AD | |
TTR | 444 | NM_000371.4 | AD | |
ACTN2 | 2685 | NM_001103.4 | AD | |
CACNA1C | 6417 | NM_000719.7 | AD | |
FHL1 | 843 | NM_001449.5 | XL | |
FHOD3 | 4320 | NM_025135.5 | AD | |
FLNC | 8178 | NM_001458.5 | AD | |
PLN | 159 | NM_002667.5 | AD |
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
- AR
- XL
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I42.2
Bioinformatik und klinische Interpretation
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