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

IllnessLeukemia, acute myeloic; hereditary


Short information

A curated panel containing 15 guideline-curated genes and altogether 22 curated genes for the comprehensive analysis of the genetic susceptibility for acute myeloic leukemia

Number of genes
13 Accredited laboratory test
Examined sequence length
17,0 kb (Core-/Core-canditate-Genes)
30,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ETV61359Gen Fusion
RUNX11443AD, Gen Fusion
TP531182AD, SMu

Informations about the disease

Clinical Comment

Neoplasms arising from precursor cells of the myeloid differentiation; characterized by clonal expansion of myeloid blasts, with fever, pallor, anemia, hemorrhages + recurrent infections


  • Alias: AML
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Ataxia-pancytopenia syndrome (SAMD9L)
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Bone marrow failure syndrome 1 (SRP72)
  • Allelic: Breast cancer, male, susceptibility to (BRCA2)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: Breast cancer, susceptibility to (CHEK2)
  • Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • 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: Colorectal cancer, susceptibility to (CHEK2)
  • Allelic: Dyskeratosis congenita, AD 2 (TERT)
  • Allelic: Dyskeratosis congenita, AD 4 (RTEL1)
  • Allelic: Dyskeratosis congenita, AD 6 (ACD)
  • Allelic: Dyskeratosis congenita, AR 4 (TERT)
  • Allelic: Dyskeratosis congenita, AR 5 (RTEL1)
  • Allelic: Dyskeratosis congenita, AR 7 (ACD)
  • Allelic: Emberger syndrome (GATA2)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Glioblastoma 3 (BRCA2)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: Hepatocellular carcinoma, somatic (TP53)
  • Allelic: Immunodeficiency 21 (GATA2)
  • Allelic: Li-Fraumeni syndrome (TP53)
  • Allelic: Li-Fraumeni syndrome 2 (CHEK2)
  • Allelic: MIRAGE syndrome (SAMD9)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Muir-Torre syndrome (MLH1, MSH2, )
  • Allelic: Myelodysplastic syndrome, somatic (TET2)
  • Allelic: Myelodysplastic syndrome, susceptibility to (GATA2)
  • Allelic: Nasopharyngeal carcinoma, somatic (TP53)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Osteosarcoma, somatic (CHEK2)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, somatic (TP53)
  • Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Allelic: Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Prostate cancer, familial, susceptibility to
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
  • Allelic: Thrombocytopenia 5 (ETV6)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Allelic: Wilms tumor (BRCA2)
  • Bone marrow failure syndrome 5 (TP53)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group S (BRCA1)
  • Immunodeficiency 75 (TET2)
  • Leukemia, acute myeloid (CEBPA)
  • Leukemia, acute myeloid (RUNX2)
  • Leukemia, acute myeloid (TERT)
  • Leukemia, acute myeloid, somatic (CEBPA)
  • Leukemia, acute myeloid, somatic (ETV6)
  • Leukemia, acute myeloid, susceptibility to (GATA2)
  • Mismatch repair cancer syndrome 1 (MLH1)
  • Mismatch repair cancer syndrome 2 (MSH2)
  • Mismatch repair cancer syndrome 3 (MSH6)
  • Mismatch repair cancer syndrome 4 (PMS2)
  • Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
  • Monosomy 7 myelodysplasia and leukemia syndrome 1 (SAMD9L)
  • Myeloproliferative/lymphoprolif. neoplasms, familial (multiple types), susceptibility to (DDX41)
  • Neutropenia, severe congenital, 8, AD (SRP54)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Gen Fusion
  • SMu
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined