Klinische FragestellungLeukämie, akute lymphoblastische, hereditär; Suszeptibilität
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 12 bzw. 15 Genen zur umfassenden Untersuchung der genetisch bedingten Suszeptibilität für akute lymphoblastische T-Zell-Leukämie
ID
LP0235
Anzahl Gene
15
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,6 kb (Core-/Core-canditate-Gene)
40,7 kb (Erweitertes Panel: inkl. additional genes)
40,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ATM | 9171 | NM_000051.4 | AR | |
BLM | 4254 | NM_000057.4 | AR | |
ETV6 | 1359 | NM_001987.5 | Gen Fusion | |
LIG4 | 2736 | NM_002312.3 | AR | |
MLH1 | 2271 | NM_000249.4 | AR | |
MSH2 | 2805 | NM_000251.3 | AR | |
MSH6 | 4083 | NM_000179.3 | AR | |
NBN | 2265 | NM_002485.5 | AR | |
PAX5 | 1074 | NM_001280547.2 | AD | |
PMS2 | 2589 | NM_000535.7 | AR | |
PTPN11 | 1782 | NM_002834.5 | AD | |
TP53 | 1182 | NM_000546.6 | AD | |
IKZF1 | 1560 | NM_006060.6 | Sus, AD | |
SH2B3 | 1728 | NM_005475.3 | AR | |
STXBP2 | 1773 | NM_006949.4 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Bösartige lymphatische Zellen im frühen Stadium der Differenzierung blockiert; 75% aller Fälle von Leukämie im Kindesalter
Synonyme
- Alias: Acute lymphoblastic T cell leukemia; ALL
- Alias: ETV6-RUNX1 ALL
- Allelic: Adrenocortical carcinoma, pediatric (TP53)
- Allelic: Aplastic anemia (NBN)
- Allelic: Ataxia-telangiectasia (ATM)
- Allelic: Basal cell carcinoma 7 (TP53)
- Allelic: Bloom syndrome (BLM)
- Allelic: Bone marrow failure syndrome 5 (TP53)
- Allelic: Breast cancer, somatic (TP53)
- Allelic: Breast cancer, susceptibility to (ATM)
- Allelic: Choroid plexus papilloma (TP53)
- Allelic: Colorectal cancer (TP53)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
- Allelic: Endometrial cancer, familial ((MSH6)
- Allelic: Erythrocytosis, somatic (SH2B3)
- Allelic: Glioma susceptibility 1 (TP53)
- Allelic: Hemophagocytic lymphohistiocytosis, fam., 5, with/-out microvillus inclusion dis. (STXBP2)
- Allelic: Hepatocellular carcinoma, somatic (TP53)
- Allelic: Immunodeficiency, common variable, 13 (IKZF1)
- Allelic: LEOPARD syndrome 1 (PTPN11)
- Allelic: LIG4 syndrome (LIG4)
- Allelic: Leukemia, acute myeloid, somatic (ETV6)
- Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
- Allelic: Li-Fraumeni syndrome (TP53)
- Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
- Allelic: Lymphoma, mantle cell, somatic (ATM)
- Allelic: Metachondromatosis (PTPN11)
- Allelic: Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
- Allelic: Muir-Torre syndrome (MLH1, MSH2)
- Allelic: Multiple myeloma, resistance to (LIG4)
- Allelic: Myelofibrosis, somatic (SH2B3)
- Allelic: Nasopharyngeal carcinoma, somatic (TP53)
- Allelic: Nijmegen breakage syndrome (NBN)
- Allelic: Noonan syndrome 1 (PTPN11)
- Allelic: Osteosarcoma (TP53)
- Allelic: Pancreatic cancer, somatic (TP53)
- Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
- Allelic: Thrombocythemia, somatic (SH2B3)
- Allelic: Thrombocytopenia 5 (ETV6)
- ALL, AML, MDS [panelapp] (TP53)
- ALL, B-ALL [panelapp] (PAX5)
- ALL, MDS, AML, CMML [panelapp] (ETV6)
- ALL, leukaemia, lymphoma [panelapp] (BLM)
- ALL, lymphoma [panelapp] (LIG4)
- Acute lymphoblastic leukaemia, ALL [panelapp] (IKZF1)
- Familial predisp to leukaemia, AD [panelapp] (SH2B3)
- JMML, ALL [panelapp] (PTPN11)
- Leukemia, acute lymphoblastic (NBN)
- Leukemia, acute lymphoblastic, susceptibility to, 3 (PAX5)
- Lymphoma, ALL, MDS, AML [panelapp] (MLH1, MSH2, MSH6, PMS2)
- Non-Hodgkin lymphoma, ALL [primarily T cell], lymphoma [panelapp] (NBN)
- PAX5-related familial ALL, Susceptibility to ALL [panelapp] (PAX5)
- Predisposition to acute lymphoblastic leukemia, ALL [panelapp] (STXBP2)
- Risk of lymphoma [panelapp] (STXBP2)
- SH2B3-related familial ALL [panelapp] (SH2B3)
- T-cell prolymphocytic leukemia, somatic [panelapp] (ATM)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Gen Fusion
- Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C91.0-
Bioinformatik und klinische Interpretation
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