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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLeukaemia, acute lymphoblastic, hereditary; susceptibility

Summary

Short information

A curated panel containing 12 or 15 genes for the comprehensive analysis of the genetic susceptibility for acute lymphoblastic T-cell leukemia

ID
LP0235
Number of genes
15 Accredited laboratory test
Examined sequence length
35,6 kb (Core-/Core-canditate-Genes)
40,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATM9171NM_000051.4AR
BLM4254NM_000057.4AR
ETV61359NM_001987.5Gen Fusion
LIG42736NM_002312.3AR
MLH12271NM_000249.4AR
MSH22805NM_000251.3AR
MSH64083NM_000179.3AR
NBN2265NM_002485.5AR
PAX51074NM_001280547.2AD
PMS22589NM_000535.7AR
PTPN111782NM_002834.5AD
TP531182NM_000546.6AD
IKZF11560NM_006060.6Sus, AD
SH2B31728NM_005475.3AR
STXBP21773NM_006949.4AR

Informations about the disease

Clinical Comment

Malignant lymphoid cells blocked in early stage of differentiation; 75% of all cases of childhood leukaemia

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Gen Fusion
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined