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IllnessBarth syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Barth syndrome comprising 33 curated genes - including 1 guideline-curated "core" gene - according to the clinical signs

ID
BP4442
Number of genes
23 Accredited laboratory test
Examined sequence length
0,9 kb (Core-/Core-canditate-Genes)
36,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
TAFAZZIN879XLR
ACTC11134AD
AGK1269AR
ATAD3A1761AD, AR
AUH1020AR
CLPB2034AR
DNAJC19351AR
ELANE804AD
G6PC31041AR
HAX1840AR
HTRA21377AR
LDB3852AD
MIB13021AD
MICOS13466AR
MYBPC33825AD, AR
MYH75808AD, AR
OPA3540AD
PRDM163831AD
SERAC11965AR
TIMM501455AR
TMEM70324AR
TNNT2867AD
TPM1855AD

Informations about the disease

Synonyms
  • Alias: 3-Methylglutaconic aciduria, type II (TAFAZZIN)
  • Alias: Barth syndrome (TAFAZZIN)
  • Alias: Cardioskeletal myopathy with neutropenia + abnormal mitochondria (TAFAZZIN)
  • Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Allelic: Atrial septal defect 5 (ACTC1)
  • Allelic: Becker muscular dystrophy (DMD)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Duchenne muscular dystrophy (DMD)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Myopathy, myofibrillar, 1 (DES)
  • 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: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
  • Allelic: Wolff-Parkinson-White syndrome (PRKAG2)
  • 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, 1A (LMNA)
  • Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Cardiomyopathy, dilated, 1D (TNNT2)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, dilated, 1LL (PRDM16)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 1R (ACTC1)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 1Y (TPM1)
  • Cardiomyopathy, dilated, 3B (DMD)
  • Cardiomyopathy, familial restrictive, 3 (TNNT2)
  • Cardiomyopathy, hypertrophic 6 (PRKAG2)
  • 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)
  • Danon disease (LAMP2)
  • Dursun syndrome (G6PC)
  • 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)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Glycogen storage disease II (GAA)
  • Glycogen storage disease of heart, lethal congenital (PRKAG2)
  • Harel-Yoon syndrome (ATAD3A)
  • Heart-hand syndrome, Slovenian type (LMNA)
  • 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)
  • Malouf syndrome (LMNA)
  • Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
  • Myotonic dystrophy 1 (DMPK)
  • Neutropenia, cyclic (ELANE)
  • Neutropenia, severe congenital 1, AD (ELANE)
  • Neutropenia, severe congenital 3, AR (HAX1)
  • Neutropenia, severe congenital 4, AR (G6PC)
  • Sengers syndrome (AGK)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined