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Diagnosis of congenital hematological disorders (gene panel)

  • Laboratoire de biologie moléculaire hémato-oncologique et hématologie constitutionnelle - CHU Liège
  • Service de Génétique Humaine
  • CHU de Liège - UniLab Lg
  • Avenue de l'hôpital, 1
  • 4000 LIEGE
  • BELGIUM
  • Director of laboratory : Dr Frédéric LAMBERT
  • More information
  • Phone : +32 (0)4 366 24 78
  • Additional Phone : +32 (0)4 366 25 61
  • Fax : +32 (0)4 366 29 74
  • Website
  • Contact
Last update: May 2022

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)

List of diseases and genes (Panel description)

List of diseases tested (56)
Acquired idiopathic sideroblastic anemia
Acute myeloid leukaemia with myelodysplasia-related features
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aggressive systemic mastocytosis
Alpha-thalassemia-X-linked intellectual disability syndrome
Alpha-thalassemia-myelodysplastic syndrome
Atypical chronic myeloid leukemia
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant secondary polycythemia
Autosomal dominant severe congenital neutropenia
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal thrombocytopenia with normal platelets
B-cell chronic lymphocytic leukemia
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
Bloom syndrome
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Chronic neutrophilic leukemia
Congenital amegakaryocytic thrombocytopenia
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Cyclic neutropenia
DDX41-related hematologic malignancy predisposition syndrome
Deafness-lymphedema-leukemia syndrome
Diamond-Blackfan anemia
Dyskeratosis congenita
Essential thrombocythemia
Familial platelet disorder with associated myeloid malignancy
Familial thrombocytosis
Fanconi anemia
Hereditary isolated aplastic anemia
Hoyeraal-Hreidarsson syndrome
Idiopathic aplastic anemia
Inherited acute myeloid leukemia
Juvenile myelomonocytic leukemia
Mantle cell lymphoma
Pancytopenia-developmental delay syndrome
Polycythemia vera
Primary familial polycythemia
Primary hypereosinophilic syndrome
Primary myelofibrosis
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Refractory anemia
Refractory anemia with excess blasts type 1
Refractory anemia with excess blasts type 2
Revesz syndrome
Shwachman-Diamond syndrome
Systemic mastocytosis with associated hematologic neoplasm
Thrombocythemia with distal limb defects
Thrombocytopenia-absent radius syndrome
Unclassified myelodysplastic syndrome
Wiskott-Aldrich syndrome
X-linked thrombocytopenia with normal platelets

Additional information

Quality management

EQA  EQA

EQA scheme(s) organized by GenQA

Chronic Lymphocytic Leukaemia (CLL) TP53 mutation analysis
2020
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.