©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLymphoproliferative disease, X chromosomal; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Lymphoproliferative Disease, X chromosomal comprising 2 curated XL-genes and altogether 23 curated genes according to the clinical signs

ID
LP9912
Number of genes
23 Accredited laboratory test
Examined sequence length
1,9 kb (Core-/Core-canditate-Genes)
50,8 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
SH2D1A378XLR
XIAP1494XLR
CD191671AR
CD27783AR
CD81711AR
CR23279AR
ICOS600AR
IKZF11560AD
IL21462AR
IRF2BP21766AD
ITK1863AR
LRBA8556AR
LYST11406AR
MS4A1894AR
NFKB12907AD
NFKB22703AD
PRF11668AR
RAB27A666AR
STX11864AR
STXBP21773AR
TNFRSF13B882AD, AR
TNFRSF13C555AR
UNC13D3273AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D82.3

Bioinformatics and clinical interpretation

No text defined