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GenetischePanel-Diagnostik

ErkrankungBarth-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Barth Syndrom mit 23 kuratierten Genen (incl. 1 "core" Gen) gemäß klinischer Verdachtsdiagnose

ID
BP4442
Anzahl Gene
23 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,9 kb (Core-/Basis-Gene)
36,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
TAFAZZIN879XLR
ACTC11134AD
AGK1269AR
ATAD3A1761AD und/oder AR
AUH1020AR
C19orf70466
  • Keine OMIM-Gs verknüpft
AR
CLPB2034AR
DNAJC19351AR
ELANE804AD
G6PC31041AR
HAX1840AR
HTRA21377AR und/oder Sus
LDB3852AD
MIB13021AD
MYBPC33825AD und/oder Dig
MYH75808AD und/oder AR und/oder Dig
OPA3540AD und/oder AR
PRDM163831AD
SERAC11965AR
TIMM501455AR
TMEM70324AR
TNNT2867AD
TPM1855AD

Infos zur Erkrankung

Synonyme
  • Alias: 3-Methylglutaconic aciduria, type II (TAFAZZIN)
  • Alias: Barth syndrome (TAFAZZIN)
  • Alias: Cardioskeletal myopathy with neutropenia + abnormal mitochondria (TAFAZZIN)
  • Allelic: Atrial septal defect 5 (ACTC1)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Myopathy, myofibrillar, 4 (LDB3)
  • Allelic: Myopathy, myosin storage, AD; AR (MYH7)
  • Allelic: Optic atrophy 3 with cataract (OPA3)
  • Allelic: Parkinson disease 13 (HTRA2)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic_ Cataract 38, AR (AGK)
  • 3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (SERAC1)
  • 3-methylglutaconic aciduria, type I (AUH)
  • 3-methylglutaconic aciduria, type III (OPA3)
  • 3-methylglutaconic aciduria, type V (DNAJC19)
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLBP)
  • 3-methylglutaconic aciduria, type VIII (HTRA2)
  • Allelic: Pontocerebellar hypoplasia, hypotonia, respiratory insuff. syndr., neonatal lethal (ATAD3A)
  • Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Cardiomyopathy, dilated, 1D (TNNT2)
  • Cardiomyopathy, dilated, 1LL (PRDM16)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 1R (ACTC1)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 1Y (TPM1)
  • Cardiomyopathy, familial restrictive, 3 (TNNT2)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 11 (ACTC1)
  • Cardiomyopathy, hypertrophic, 2 (TNNT2)
  • Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Cardiomyopathy, hypertrophic, 3 (TPM1)
  • Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Combined oxidative phosphorylation deficiency 37 (C19orf70)
  • Dursun syndrome (G6PC)
  • Harel-Yoon syndrome (ATAD3A)
  • 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 8 (PRDM16)
  • Left ventricular noncompaction 9 (TPM1)
  • Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
  • Neutropenia, cyclic (ELANE)
  • Neutropenia, severe congenital 1, AD (ELANE)
  • Neutropenia, severe congenital 3, AR (HAX1)
  • Neutropenia, severe congenital 4, AR (G6PC)
  • Sengers syndrome (AGK)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder Dig
  • AR
  • AR und/oder Sus
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.-

Bioinformatik und klinische Interpretation

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