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Klinische FragestellungKardiomyopathie, pädiatrisch; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein umfassendes differentialdiagnostisches panel für Kardiomyopathie, pädiatrisch, mit 7 "core candidate"-Genen bzw. insgesamt 55 kuratierten Genen gemäß der klinischen Verdachtsdiagnose

ID
KP5152
Anzahl Gene
13 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
12,1 kb (Core-/Core-canditate-Gene)
139,9 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
FXN633NM_000144.5XL
MYBPC33825NM_000256.3AD, AR
MYH75808NM_000257.4AD, AR
PTPN111782NM_002834.5AD
ACTC11134NM_005159.5AD
BRAF2301NM_004333.6AD
DMD11058NM_004006.3XL
DSP8616NM_004415.4AD, AR
HRAS570NM_005343.4AD
KRAS567NM_004985.5AD
LMNA1995NM_170707.4AD
SPRED11335NM_152594.3AD
TTN100272NM_001267550.2AD

Infos zur Erkrankung

Synonyme
  • Allelic: Atrial fibrillation, familial, 10 (SCN5A)
  • Allelic: Auditory neuropathy, AD 3 (TMEM43)
  • Allelic: Brugada syndrome 1 (SCN5A)
  • Allelic: Cataract 16, multiple types (CRYAB)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Creatine phosphokinase, elevated serum (CAV3)
  • Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
  • Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
  • Allelic: Fatty liver, acute, of pregnancy (HADHA)
  • Allelic: Fibromatosis, gingival, 1 (SOS1)
  • Allelic: Gaucher disease, perinatal lethal (GBA1)
  • Allelic: HELLP syndrome, maternal, of pregnancy (HADHA)
  • Allelic: Heart block, nonprogressive (SCN5A)
  • Allelic: Heart block, progressive, type IA (SCN5A)
  • Allelic: Keratosis palmoplantaris striata II (DSP)
  • Allelic: Lewy body dementia, susceptibility to (GBA1)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Long QT syndrome 3 (SCN5A)
  • Allelic: Long QT syndrome 9 (CAV3)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Myopathy, distal, 6, adult onset (ACTN2)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA1)
  • Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
  • Allelic: Restrictive dermopathy 2 (LMNA)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Allelic: Skin fragility-woolly hair syndrome (DSP)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Allelic: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency (RYR2)
  • Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
  • Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
  • Arrhythmogenic right ventricular dysplasia 10 (DSG2)
  • Arrhythmogenic right ventricular dysplasia 12 (JUP)
  • Arrhythmogenic right ventricular dysplasia 2(RYR2)
  • Arrhythmogenic right ventricular dysplasia 5 (TMEM43)
  • Arrhythmogenic right ventricular dysplasia 8 (DSP)
  • Arrhythmogenic right ventricular dysplasia 9 (PKP2)
  • Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Atrial septal defect 5 (ACTC1)
  • Barth syndrome (TAFAZZIN)
  • Becker muscular dystrophy (DMD)
  • CPT II deficiency, infantile (CPT2)
  • CPT II deficiency, lethal neonatal (CPT2)
  • CPT II deficiency, myopathic, stress-induced (CPT2)
  • Cardiofaciocutaneous syndrome (BRAF)
  • Cardiofaciocutaneous syndrome 2 (KRAS)
  • Cardiomyopathy, dilated, 1A (LMNA)
  • Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
  • Cardiomyopathy, dilated, 1BB (DSG2)
  • Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Cardiomyopathy, dilated, 1D (TNNT2)
  • Cardiomyopathy, dilated, 1DD (RBM20)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1FF (TNNI3)
  • Cardiomyopathy, dilated, 1G (TTN)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, dilated, 1II (CRYAB)
  • Cardiomyopathy, dilated, 1L (SGCD)
  • Cardiomyopathy, dilated, 1M (CSRP3)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 1P (PLN)
  • Cardiomyopathy, dilated, 1R (ACTC1)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 1W (VCL)
  • Cardiomyopathy, dilated, 1Y (TPM1)
  • Cardiomyopathy, dilated, 1Z (TNNC1)
  • Cardiomyopathy, dilated, 2A (TNNI3)
  • Cardiomyopathy, dilated, 3B (DMD)
  • Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
  • Cardiomyopathy, familial hypertrophic (CAV3)
  • Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Cardiomyopathy, familial restrictive, 1 (TNNI3)
  • Cardiomyopathy, familial restrictive, 3 (TNNT2)
  • Cardiomyopathy, hypertrophic 6 (PRKAG2)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 10 (MYL2)
  • Cardiomyopathy, hypertrophic, 11 (ACTC1)
  • Cardiomyopathy, hypertrophic, 12 (CSRP3)
  • Cardiomyopathy, hypertrophic, 13 (TNNC1)
  • Cardiomyopathy, hypertrophic, 15 (VCL)
  • Cardiomyopathy, hypertrophic, 16 (MYOZ2)
  • Cardiomyopathy, hypertrophic, 18 (PLN)
  • Cardiomyopathy, hypertrophic, 2 (TNNT2)
  • 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, 7 (TNNI3)
  • Cardiomyopathy, hypertrophic, 8 (MYL3)
  • Carnitine deficiency, systemic primary (SLC22A5)
  • Congenital myopathy with excess of muscle spindles (HARS)
  • Costello syndrome (HARS)
  • Danon disease (LAMP2)
  • Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Duchenne muscular dystrophy (DMD)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Emery-Dreifuss muscular dystrophy 5, AD (SYNE2)
  • Emery-Dreifuss muscular dystrophy 7, AD (TMEM43)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Gaucher disease, type I, II, III, IIIC (GBA1)
  • Glycogen storage disease II (GAA)
  • Glycogen storage disease IV (GBE1)
  • Glycogen storage disease of heart, lethal congenital (PRKAG2)
  • Heart-hand syndrome, Slovenian type (LMNA)
  • Hutchinson-Gilford progeria (LMNA)
  • LCHAD deficiency (HADHA)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 3 (BRAF)
  • Laing distal myopathy (MYH7)
  • 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 7 (MIB1)
  • Left ventricular noncompaction 9 (TPM1)
  • Legius syndrome (SPRED1)
  • Malouf syndrome (LMNA)
  • Mitochondrial trifunctional protein deficiency (HADHA)
  • Muscular dystrophy, congenital (LMNA)
  • Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Muscular dystrophy, limb-girdle, AR 6 (SGCD)
  • Muscular dystrophy, limb-girdle, AR 7 (TCAP)
  • Myopathy, congenital with structured cores + Z-line abnormalities (ACTN2)
  • Myopathy, distal, Tateyama type (CAV3)
  • Myopathy, myofibrillar, 1 (DES)
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MYL2)
  • Myopathy, myofibrillar, 2 (CRYAB)
  • Myopathy, myofibrillar, 4 (LDB3)
  • Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
  • Myopathy, myosin storage, AD (MYH7)
  • Myopathy, myosin storage, AR (MYH7)
  • Naxos disease (JUP)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 3 (KRAS)
  • Noonan syndrome 4 (SOS1)
  • Noonan syndrome 7 (BRAF)
  • Polyglucosan body disease, adult form (GBE1)
  • Rippling muscle disease 2 (CAV3)
  • Salih myopathy (TTN)
  • Scapuloperoneal syndrome, myopathic type (MYH7)
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Spinocerebellar ataxia, AR 8 (SYNE1)
  • Tibial muscular dystrophy, tardive (TTN)
  • Wolff-Parkinson-White syndrome (PRKAG2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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