English
Klinische FragestellungLymphoproliferative Krankheit, X-chromosomal; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Lymphoproliferative Krankheit, X-chromosomal, mit 2 kuratierten XL-Genen im engeren Sinn bzw. zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP9912
Anzahl Gene
23
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,9 kb (Core-/Core-canditate-Gene)
50,8 kb (Erweitertes Panel: inkl. additional genes)
50,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| SH2D1A | 378 | NM_001114937.3 | XLR | |
| XIAP | 1494 | NM_001167.4 | XL | |
| CD19 | 1671 | NM_001770.6 | AR | |
| CD27 | 783 | NM_001242.5 | AR | |
| CD81 | 711 | NM_004356.4 | AR | |
| CR2 | 3279 | NM_001006658.3 | AR | |
| ICOS | 600 | NM_012092.4 | AR | |
| IKZF1 | 1560 | NM_006060.6 | AD | |
| IL21 | 462 | NM_001207006.3 | AR | |
| IRF2BP2 | 1766 | NM_001077397.1 | AD | |
| ITK | 1863 | NM_005546.4 | AR | |
| LRBA | 8556 | NM_001199282.2 | AR | |
| LYST | 11406 | NM_000081.4 | AR | |
| MS4A1 | 894 | NM_021950.4 | AR | |
| NFKB1 | 2907 | NM_001165412.2 | AD | |
| NFKB2 | 2703 | NM_001077494.3 | AD | |
| PRF1 | 1668 | NM_001083116.3 | AR | |
| RAB27A | 666 | NM_004580.5 | AR | |
| STX11 | 864 | NM_003764.4 | AR | |
| STXBP2 | 1773 | NM_006949.4 | AR | |
| TNFRSF13B | 882 | NM_012452.3 | AD, AR | |
| TNFRSF13C | 555 | NM_052945.4 | AR | |
| UNC13D | 3273 | NM_199242.3 | AR, AD, Sus |
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
- AR
- Sus
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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