Available tests

Below you will find the tests available. We strive to report results within 4 weeks.

Molecular diagnostics for Hereditary Anemia

• Hemaglobinopathies
• Red blood cell membrane defects
• Enzyme deficiencies
• Bone marrow failure

 

Molecular diagnostics for complement and hemostasis mediated diseases

Complement

• Thrombotic microangiopathies (TTP/aHUS)
• Meningitis
• Angioedema
• Other diseases
• Coagulation/Hemostasis

Coagulation/Hemostasis

• Thrombotic microangiopathies (TTP/aHUS)
• Thrombosis
• Hemostasis

Molecular diagnostics for Thrombocytopathies

 

Molecular diagnostics for Immune deficiencies

• Neutropenia
• Chronic granulomatous disease and other microbial killing defects
• Leukocyte adhesion deficiency and chemotaxis disorders
• Bone marrow failure and additional blood diseases

Molecular diagnostics for Hematological malignancies

• Molecular diagnostics for AML
• Molecular diagnostics for MDS and MPN
• TP53 by hematological malignancies
• UBA1 by VEXAS syndrome