Main Focuses

Human Genetics

 

Molecular Genetics

Our molecular genetic laboratory, equipped with state-of-the-art equipment and comprehensive human genetic and bioinformatic expertise, deals with the diagnostics of constitutional, i. e. hereditary, as well as somatic genetic changes, especially in tumor cells.

From SNP analysis for established gene variants, through Sanger sequencing or NGS panel analysis of disease genes, to whole-exome analysis of the entire active genome using Illumina NextGen sequencers, we have the entire range of molecular genetic diagnostics at our disposal.

Our strength lies in the patient-oriented clinical implementation of our competencies in the laboratory in close cooperation with the treating physicians and, in genetic counseling, in direct discussions with the patients themselves. We are always approachable and search together with you for solutions to your problems!

The particular focus of our diagnostics on hereditary diseases are:

  • Familial tumor dispositions (e. g. hereditary breast and ovarian cancer)
  •  Hereditary cardiac, vascular and connective tissue diseases (e. g. cardiomyopathies)
  • Hereditary disorders of blood coagulation (e. g. Willebrand’s syndrome, Hemophilia A)

Cytogenetics

Our cytogenetic laboratory is dedicated to the diagnosis of chromosomal abnormalities using state-of-the-art techniques.

A special focus is on tumor cytogenetics, i. e. the diagnosis of acquired chromosomal changes that are important for therapy control in leukaemia and other hematological diseases, e. g:

  • Non-Hodgkin’s lymphomas / plasmocytomas
  • Myelodysplastic Syndromes
  • Myeloproliferative neoplasia
  • Acute and chronic myeloid leukaemias
  • Acute and chronic lymphatic leukemias

In addition to chromosome analysis, we have at our disposal a broad spectrum of molecular cytogenetic investigations (fluorescence in situ hybridization (FISH)).

The interdisciplinary competencies at our institute enable us to offer multidimensional diagnostics “from a single source”, in which immunophenotyping, tumor cytogenetics and molecular genetics work together on the same sample for maximum patient-oriented and cost-efficient diagnostics.

Our services:

  • Chromosome analysis / FISH in haematological neoplasia (bone marrow, peripheral blood)
  • Prenatal chromosome analyses (amniotic fluid, chorionic villi, umbilical cord blood, tissue of abortion)
  • “Prenatal rapid test“ (detection or exclusion of the most common autosomal trisomies (13, 18, 21) and numerical gonosomal aberrations)
  • Postnatal chromosome analysis (peripheral blood)

Note

According to the Genetic Diagnostics Act, every examination request for human genetic pre- and postnatal diagnostics must be accompanied by a declaration of consent from the patient or his legal representative (does not apply to tumor genetic examinations).

The form for this is available in the download area of our homepage.

Your contact for human genetic diagnostics

Prof. Dr. med. Wolfram Henn
w.henn@immungenetik-kl.de
Phone: +49 (0)631 / 316 70-0

Dipl.-Biol. Annette Wodsack (Cytogenetics)
humangenetik@immungenetik-kl.de
Phone: +49 (0)631 / 316 70-0

Dipl.-Biol. Thomas Alef (Molecular genetics)
t.alef@immungenetik-kl.de
Phone: +49 (0)631 / 316 70-0