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ErkrankungAutoimmun-hämolytische Anämie; Differentialdiagnose

Zusammenfassung

Kurzinformation

AP5611_KI

ID
AP5611
Anzahl Gene
22 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,3 kb (Core-/Basis-Gene)
28,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

AP5611_DH

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CASP101368AD und/oder Sus
FAS1008AD und/oder SMu
FASLG846AD und/oder SMu
AK1585AR
BPGM780AR
CD40LG786XLR
ENO11026
FOXP31296XLR
G6PD1548XLD
GCLC1800AR
GPI1677AR
GPX1612AR
GSR1569AR
GSS1425AR
HK12754AD und/oder AR
NT5C3A894AR
PGK11254XLR
PKLR1725AD und/oder AR
RHAG1230AD
SLC2A11479AD und/oder AR
TPI1750AR
WAS1509XLR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_AP5611

 

Synonyme
  • Adenosine triphosphate, elevated, of erythrocytes (PKLR)
  • Alias: Autoimmune haemolytic anaemia, AIHA
  • Allelic: Dystonia 9 (SLC2A1)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Lung cancer, susceptibility to (FASLG)
  • Allelic: Myocardial infarction, susceptibility to (GCLC)
  • Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
  • Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
  • Allelic: Resistance to malaria due to G6PD deficiency (G6PD)
  • Allelic: Retinitis pigmentosa 79 (HK1)
  • Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Allelic: Wiskott-Aldrich syndrome (WAS)
  • Anemia, hemolytic, Rh-null, regulator type (RHAG)
  • Anemia, hemolytic, due to UMPH1 deficiency (NT5C3A)
  • Autoimmune lymphoproliferative syndrome (FAS)
  • Autoimmune lymphoproliferative syndrome, type IA (FAS)
  • Autoimmune lymphoproliferative syndrome, type IB (FASLG)
  • Autoimmune lymphoproliferative syndrome, type II (CASP10)
  • Enolase alpha deficiency (ENO1)
  • Erythrocytosis, familial, 8 (BPGM)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Glutathione synthetase deficiency (GSS)
  • Hemolytic anemia due to adenylate kinase deficiency (AK1)
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (GCLC)
  • Hemolytic anemia due to glutathione peroxidase deficiency (GPX1)
  • Hemolytic anemia due to glutathione reductase deficiency (GSR)
  • Hemolytic anemia due to glutathione synthetase deficiency (GSS)
  • Hemolytic anemia due to hexokinase deficiency (HK1)
  • Hemolytic anemia due to triosephosphate isomerase deficiency (TPI1)
  • Hemolytic anemia, G6PD deficient, favism (G6PD)
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency (GPI)
  • Immunodeficiency, XL, with hyper-IgM (CD40LG)
  • Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
  • Neutropenia, severe congenital, XL (WAS)
  • Overhydrated hereditary stomatocytosis (RHAG)
  • Phosphoglycerate kinase 1 deficiency (PGK1)
  • Pyruvate kinase deficiency (PKLR)
  • Thrombocytopenia, XL (WAS)
  • Thrombocytopenia, XL, intermittent (WAS)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder SMu
  • AD und/oder Sus
  • AR
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D58.8

Bioinformatik und klinische Interpretation

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