English
ErkrankungLymphom, splenisches Marginalzonen- [SMu]
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel zur Mutationssuche beim Splenischen Marginalzonen-Lymphom mit 11 kuratierten Genen (gemäß klinischer Verdachtsdiagnose)
ID
SP0940
Anzahl Gene
10
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
45,0 kb (Erweitertes Panel)
45,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| ARID1A | 6858 | AD und/oder SMu und/oder Sus und/oder Impr | |
| ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
| CARD11 | 3465 | AD und/oder AR und/oder SMu | |
| CCND3 | 636 | Mult und/oder SMu | |
| IKBKB | 2265 | AD und/oder AR und/oder SMu | |
| KMT2D | 16614 | AD und/oder SMu und/oder Sus und/oder Impr | |
| MYD88 | 891 | SMu und/oder Sus | |
| TNFAIP3 | 2373 | AD und/oder SMu und/oder Sus | |
| TP53 | 1182 | AD und/oder SMu und/oder Sus | |
| TRAF3 | 1458 | AD und/oder SMu |
Infos zur Erkrankung
Klinischer Kommentar
Indolentes B-Zell-Non-Hodgkin-Lymphom: abnormale klonale Proliferation reifer B-Lymphozyten auch in Milz, im Knochenmark, häufig im Blut; Splenomegalie, Lymphozytose, Anämie und/oder Thrombozytopenie; Hepatitis-C-Virus + autoimmune Manifestationen wie autoimmune hämolytische Anämie, autoimmune Thrombozytopenie
Synonyme
- Allelic: Adrenocortical carcinoma, pediatric (TP53)
- Allelic: Alagille syndrome 2 (NOTCH2)
- Allelic: Ataxia-telangiectasia (ATM)
- Allelic: Autoinflammatory syndrome, familial, Behcet-like (TNFAIP3)
- Allelic: B-cell expansion with NFKB + T-cell anergy (CARD11)
- Allelic: Basal cell carcinoma 7 (TP53)
- Allelic: Bone marrow failure syndrome 5 (TP53)
- Allelic: Breast cancer, somatic (TP53)
- Allelic: Breast cancer, susceptibility to (ATM)
- Allelic: Choroid plexus papilloma (TP53)
- Allelic: Coffin-Siris syndrome 2 (ARID1A)
- Allelic: Colorectal cancer (TP53)
- Allelic: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 (TRAF3)
- Allelic: Glioma susceptibility 1 (TP53)
- Allelic: Hajdu-Cheney syndrome (NOTCH2)
- Allelic: Hepatocellular carcinoma, somatic (TP53)
- Allelic: Immunodeficiency 11A (CARD11)
- Allelic: Immunodeficiency 11B with atopic dermatitis (CARD11)
- Allelic: Immunodeficiency 15A, 15B (IKBKB)
- Allelic: Immunodeficiency 68 (MYD88)
- Allelic: Li-Fraumeni syndrome (TP53)
- Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
- Allelic: Macroglobulinemia, Waldenstrom, somatic (MYD88)
- Allelic: Nasopharyngeal carcinoma, somatic (TP53)
- Allelic: Osteosarcoma (TP53)
- Allelic: Pancreatic cancer, somatic (TP53)
- Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
- Lymphoma, mantle cell, somatic (ATM)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR und/oder SMu
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
- AD und/oder SMu und/oder Sus und/oder Impr
- Mult und/oder SMu
- SMu und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C88.4-
Bioinformatik und klinische Interpretation
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