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ErkrankungLymphoproliferative Krankheit, X-chromosomal; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Lymphoproliferative Krankheit, X-chromosomal, mit 2 bzw. zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
LP9912
Anzahl Gene
23 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,9 kb (Core-/Basis-Gene)
50,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
SH2D1A378XLR
XIAP1494XLR
CD191671AR
CD27783AR
CD81711AR
CR23279AR und/oder Ass
ICOS600AR
IKZF11560AD und/oder SMu
IL21462AR
IRF2BP21766AD
ITK1863AR
LRBA8556AR
LYST11406AR
MS4A1894AR
NFKB12907AD
NFKB22703AD
PRF11668AR
RAB27A666AR
STX11864AR
STXBP21773AR
TNFRSF13B882AD und/oder AR
TNFRSF13C555AR
UNC13D3273AR

Infos zur Erkrankung

Synonyme
  • Alias: Duncan Disease (SH2D1A, XIAP)
  • Alias: Lymphoproliferative Disease, XL (SH2D1A, XIAP)
  • Alias: X-chromosomales lymphoproliferatives Syndrom (SH2D1A, XIAP)
  • Allelic: Aplastic anemia (PRF1)
  • Allelic: Lymphoma, non-Hodgkin (PRF1)
  • Allelic: Systemic lupus erythematosus, susceptibility to, 9 (CR2)
  • Chediak-Higashi syndrome (LYST)
  • Griscelli syndrome, type 2 (RAB27A)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
  • Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
  • Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
  • Immunodeficiency, common variable, 1 (ICOS)
  • Immunodeficiency, common variable, 10 (NFKB2)
  • Immunodeficiency, common variable, 11 (IL21)
  • Immunodeficiency, common variable, 12 (NFKB1)
  • Immunodeficiency, common variable, 13 (IKZF1)
  • Immunodeficiency, common variable, 14 (IRF2BP2)
  • Immunodeficiency, common variable, 2 (TNFRSF13B)
  • Immunodeficiency, common variable, 3 (CD19)
  • Immunodeficiency, common variable, 4 (TNFRSF13C)
  • Immunodeficiency, common variable, 5 (MS4A1)
  • Immunodeficiency, common variable, 6 (CD81)
  • Immunodeficiency, common variable, 7 (CR2)
  • Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
  • Immunoglobulin A deficiency 2 (TNFRSF13B)
  • Lymphoproliferative syndrome 1 (ITK)
  • Lymphoproliferative syndrome 2 (CD27)
  • Lymphoproliferative syndrome, XL, 1 (SH2D1A)
  • Lymphoproliferative syndrome, XL, 2 (XIAP)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder SMu
  • AR
  • AR und/oder Ass
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D82.3

Bioinformatik und klinische Interpretation

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