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Klinische FragestellungAutoimmun-LymphoProliferatives Syndrom, ALPS; Differentialdiagnose

Auftragsschein Klin. Fragestellung
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Zusammenfassung

Kurzinformation

Ein umfassendes differentialdiagnostisches panel für Autoimmun-LymphoProliferatives Syndrom mit 5 Leitlinien-kuratierten Genen sowie insgesamt 28 kuratierten Genen

ID
AP9281
Anzahl Gene
1 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
0,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
KRAS567NM_004985.5AD

Infos zur Erkrankung

Synonyme
  • Alias: ALPS
  • Alias: Canale-Smith-Syndrom
  • Alias: FAS-Mangel
  • Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
  • Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
  • Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
  • Allelic: Hashimoto thyroiditis (CTLA4)
  • Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
  • Allelic: Immunoglobulin A deficiency 2 (TNFRSF13B)
  • Allelic: Neutropenia, severe congenital, XL (WAS)
  • Allelic: Noonan syndrome 3 (KRAS)
  • Allelic: Systemic lupus erythematosus, susceptibility to (CTLA4)
  • Allelic: Systemic lupus erythematosus, susceptibility to, 9 (CR2)
  • Allelic: Thrombocytopenia, XL (WAS)
  • Allelic: Thrombocytopenia, XL, intermittent (WAS)
  • Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Autoimmune lymphoproliferative syndrome, type IA (FAS)
  • Autoimmune lymphoproliferative syndrome, type IB (FASLG)
  • Autoimmune lymphoproliferative syndrome, type II (CASP10)
  • Autoimmune lymphoproliferative syndrome, type III (PRKCD)
  • Caspase 8 lymphadenopathy syndrome (CASP8)
  • Immune dysregulation with autoimmunity, immunodeficiency, lymphoproliferation (CTLA4)
  • Immunodeficiency 90 with encephalopathy, functional hyposplenia, hepatic dysfunction (FADD)
  • Immunodeficiency with hyper IgM, type 5 (UNG)
  • Immunodeficiency with hyper-IgM, type 2 (AICDA)
  • Immunodeficiency with hyper-IgM, type 3 (CD40)
  • Immunodeficiency, XL, with hyper-IgM (CD40LG)
  • 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)
  • Lymphoproliferative syndrome, XL, 1 (SH2D1A)
  • RAS-associated autoimmune leukoproliferative disorder (KRAS)
  • Wiskott-Aldrich syndrome (WAS)
Erbgänge, Vererbungsmuster etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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