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Klinische FragestellungKardiomyopathie, restriktive; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kardiomyopathie, restriktive, mit 5 "core-candidate"-Genen sowie insgesamt 32 kuratierten Genen gemäß der klinischen Fragestellung

ID
RP0922
Anzahl Gene
26 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
16,9 kb (Core-/Core-canditate-Gene)
53,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
DES1413NM_001927.4AD
FLNC8178NM_001458.5AD
MYH75808NM_000257.4AD
TNNI3633NM_000363.5AD, AR
TNNT2867NM_001001430.3AD
ABCC94650NM_005691.4AD
ACTC11134NM_005159.5AD
BAG31728NM_004281.4AD
CRYAB528NM_001885.3AD
FHL1843NM_001449.5XL
GLA1290NM_000169.3XL
HAMP255NM_021175.4AR
HFE1047NM_000410.4AR
HJV1281NM_213653.4AR
KIF20A2691NM_005733.3AR
LDB3852NM_001080116.1AD
LMNA1995NM_170707.4AD
MYBPC33825NM_000256.3AD, AR
MYH65820NM_002471.4AD
MYL2501NM_000432.4AD, AR
MYPN3963NM_032578.4AD
TAFAZZIN879NM_000116.5XLR
TNNC1486NM_003280.3AD
TPM1855NM_001018005.2AD
TRIM631062NM_032588.4AR
TTR444NM_000371.4AD

Infos zur Erkrankung

Synonyme
  • Allelic: Alzheimer disease, susceptibility to (HFE)
  • 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: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
  • Allelic: Intellectual disability + myopathy syndrome (ABCC9)
  • Allelic: Laing distal myopathy(MYH7)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability (BMP7)
  • Allelic: Microvascular complications of diabetes 7 (HFE)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • 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, 9, with early respiratory failure (TTN)
  • 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: Porphyria cutanea tarda, susceptibility to (HFE)
  • Allelic: Porphyria variegata, susceptibility to (HFE)
  • 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: Restrictive dermopathy 2 (LMNA)
  • 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: Tibial muscular dystrophy, tardive (TTN)
  • Allelic: Transferrin serum level QTL2 (HFE)
  • Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
  • Barth syndrome (TAFAZZIN)
  • Cardiomyopathy, dilated, 1A (LMNA)
  • Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Cardiomyopathy, dilated, 1D (TNNT2)
  • Cardiomyopathy, dilated, 1EE (MYH6)
  • Cardiomyopathy, dilated, 1FF (TNNI3)
  • Cardiomyopathy, dilated, 1G (TTN)
  • 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 hypertrophic, 9 (TTN)
  • 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, 10 (MYL2)
  • 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)
  • Congenital myopathy 5 with cardiomyopathy (TTN)
  • Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
  • Heart-hand syndrome, Slovenian type (LMNA)
  • Hemochromatosis (HFE)
  • Hemochromatosis, type 3 (TFR2)
  • Hemochromatosis, type 4 (SLC40A1)
  • 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)
  • Malouf syndrome (LMNA)
  • Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MYL2)
  • Pseudoxanthoma elasticum (ABCC6)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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