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GenetischePanel-Diagnostik

ErkrankungPlötzlicher Tod (<40 Jahren)

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für "Plötzlicher Tod (<40 Jahren)" mit 3 bzw. zusammen genommen 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP4333
Anzahl Gene
14 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
6,0 kb (Core-/Basis-Gene)
19,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
GLRA11350AD und/oder AR
KCNJ81275AD
PHOX2B945AD
PPA21017AR
TSPYL11314AR
ASCL1711AD
BDNF744AD
EDN3717AD und/oder AR
GDNF636AD
KCND21893AD und/oder Ass
KCND31968AD
MAOA1584XLR
RET3345AD und/oder Dig und/oder Sus
SLC6A41893AD

Infos zur Erkrankung

Klinischer Kommentar

Heterogene Gruppe von Erkrankungen

 

Synonyme
  • Allelic: Anxiety-related personality traits (SLC6A4)
  • Allelic: Brugada syndrome 9 (KCND3)
  • Allelic: Hirschsprung disease, protection against (RET)
  • Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
  • Allelic: Hirschsprung disease, susceptibility to, 3 (GDNF)
  • Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
  • Allelic: Medullary thyroid carcinoma (RET)
  • Allelic: Multiple endocrine neoplasia IIA + IIB (RET)
  • Allelic: Neuroblastoma with Hirschsprung disease (PHOX2B)
  • Allelic: Neuroblastoma, susceptibility to, 2 (PHOX2B)
  • Allelic: Obsessive-compulsive disorder (SLC6A4)
  • Allelic: Pheochromocytoma (RET)
  • Allelic: Pheochromocytoma, modifier of (GDNF)
  • Allelic: Spinocerebellar ataxia 19 (KCND3)
  • Allelic: Sudden cardiac failure, alcohol-induced (PPA2)
  • Allelic: Waardenburg syndrome, type 4B (EDN3)
  • Cardio-cutaneous syndrome, included
  • Central hypoventilation syndrome (GDNF)
  • Central hypoventilation syndrome, congenital (ASCL1, EDN3, RET)
  • Central hypoventilation syndrome, congenital, with/without Hirschsprung disease (PHOX2B)
  • Haddad syndrome Haddad syndrome (ASCL1)
  • Hyperekplexia 1 (GLRA1)
  • J-wave syndrome with sudden cardiac death, sudden cardiac arrest, included
  • Sudden Infant Death Syndrome (MAOA, SLC6A4))
  • Sudden cardiac death (KCND2, KCND3)
  • Sudden cardiac failure, infantile (PPA2)
  • Sudden death in young people (SLC6A4)
  • Sudden fetal + infant death (BDNF)
  • Sudden infant death syndrome [panelapp] (KCNJ8)
  • Sudden infant death with dysgenesis of the testes syndrome (TSPYL1)
  • Sudden unexplained death, included
  • Unclassified sudden infant death, included
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Ass
  • AD und/oder Dig und/oder Sus
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
R96.0

Bioinformatik und klinische Interpretation

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