Skip to main content
Genetic
Genetic

Genetic

Genetic

genetics department combines clinical genetics consultation activities and the genetics laboratory. He thus participates in the clinical and biological diagnosis of hereditary genetic diseases (rare diseases) and acquired (cancer) with the aim of confirming/reversing a diagnosis and adapting the care of the patient and his relatives. It also participates in the genetic characterization of tumours, and in monitoring the evolution of the disease.

genetics department combines clinical genetics consultation activities and the genetics laboratory. He thus participates in the clinical and biological diagnosis of hereditary genetic diseases (rare diseases) and acquired (cancer) with the aim of confirming/reversing a diagnosis and adapting the care of the patient and his relatives. It also participates in the genetic characterization of tumours, and in monitoring the evolution of the disease.

  • Consultations Consultations Consultations Consultations Consultations

    Prenatal genetics

    Dr Nicolas Gruchy, Dr Arnaud Molin, Dr Manon Godin
    Consultation schedule

    Postnatal genetics

    Dr Arnaud Molin, Dr Aline Vincent, Dr Sacha Weber, Dr Alexia Bourgois, Dr Andreea Apetrei
    Consultation schedule

    Genetic counseling

    Mr. Yann Troadec, Ms. Camille Théard
    Consultation schedule

    Genomics course

    Ms Noelya Planchard

      Composition of service

      • 2 university lecturers · hospital practitioners
      • 5 hospital practitioners
      • 2 university hospital assistants
      • 1 specialist assistant
      • 2 genetic counselors
      • 1 senior health manager
      • 1 health executive
      • 1 psychologist
      • 1 engineer
      • 16 laboratory technicians
      • 5 medico-administrative assistants
    • Tasks and Activities

      Tasks

      Consultation

      The genetics service is a university hospital service which meets the needs of the population of Normandy for which it constitutes one of the regional resources. It is a partner of the Federation Hospitalo-Universitaire Rouen Caen “personalized medicine”.

      • The consultation : The clinical genetics team will receive symptomatic or asymptomatic patients for the purpose of diagnosis or genetic counseling. These patients are either referred by doctors because of a suspicion of genetic pathology, or by their relatives when a genetic disease is known in the family.

      Genetics consultations are intended for the diagnosis of genetic diseases and genetic counseling, i.e. informing patients about the nature of their disease, its consequences, the likelihood of developing or transmitting it, the means of prevent or cure it. In certain circumstances, the investigations may extend to other family members in order to inform affected relatives, to detect undiagnosed affected relatives, or to screen for healthy carriers.

      The clinical genetics department therefore carries out consultations:

      • Postnatal diagnosis: intellectual disability, autism, cardiogenetics, neurogenetics, ophthalmogenetics, malformation syndrome, mitochondrial diseases, etc.
      • Prenatal diagnosis
      • Genetic counseling (relative consultations)
      • Follow-up of patients with rare genetic diseases

      Multidisciplinary: Marfan syndrome, Rendu Osler disease, etc.

      To make an appointment

      You must send us your request by post or by email @secretariat with:

      • the addressing letter from the attending physician or specialist,
      • more or less the results of genetic analyzes already carried out on your relatives.

      We also need to know your contact details in order to contact you ( Name, First name, date and place of birth, email and postal address, mobile phone number ).

      How to prepare for your genetic consultation?

      The geneticist or genetic counselor you are going to meet needs accurate information about your personal and family history. Also, make sure you come to your consultation with the following documents:

      • Administrative documents (national identity card, vital card, mutual insurance card, family booklet for minor children, etc.),
      • Medical documents (health record, X-rays, letters, elements of medical records, biological assessments, etc.).

      If some members of the family present or have presented difficulties (handicap, intellectual disability, school difficulties, cancer, malformation, cardiac pathology, or other disease), please try to find out about the name of the disease and the possible results. analyzes (at best the surname/first name/date of birth of the affected patient, the name of the center and the name of the doctor treating him).

      You come for a medical genetics consultation

      Different situations can lead you to consult in genetics. You will be welcomed by a doctor from the team accompanied by a medical student or a genetic counsellor.

      For children and in a situation of pregnancy, the presence of both parents is desirable . The consultation can take place in pairs with the psychologist and lasts approximately one hour.

      What happens during your first consultation?

      We will ask you for information about your medical and family history. A family tree will be made with you, taking up the background of your relatives (parents, siblings, children, uncles, aunts, cousins ​​and grandparents) .

      A medical examination may be carried out.

      We may ask you for written permission to take photographs. In some cases, photographs are an essential tool in the medical file. They are confidential and will be kept in your medical file of the genetics department only.

      Genetic tests may be offered to you during the consultation. These examinations will be explained to you, and if you accept them, you will be asked to sign a consent necessary for them to be carried out.

      And after the consultation?

      The examinations are carried out from a blood test for which it is not necessary to be on an empty stomach, and which will be carried out immediately after the consultation.
      An additional check-up including other examinations (x-rays, blood test, etc.) may be offered. A letter will be sent to you and to the various correspondents involved in your care, according to your request.
      Obtaining test results can take several months. As soon as we receive them, you will be notified and a summary consultation may be offered to you.

      A space for talking, listening and psychological support is also available. A meeting with the psychologist is possible, for yourself or for your loved ones, at any time.

      Do not hesitate to contact us if you would like further details:
      02 31 27 25 69

      The laboratory

      Analyzes

      The laboratory team is mobilized to carry out cytogenetics and applied molecular genetics analyzes in the context of hereditary diseases and the genetic characterization of tumors (malignant hemopathies and solid tumours) for diagnostic, prognostic and theranostic purposes.

      The laboratory is linked to the hospital cancer genetics platform (GENECAN) and the nucleic acid sequencing platform. Somatic activity is integrated within the federative structure MOCAE .

      The genetics laboratory has an authorization to examine a person's genetic characteristics.

      Cytogenetic sector

      He applies conventional cytogenetic techniques and molecular cytogenetic techniques, in the field of constitutional anomalies, but also for oncohematology and oncogenetics, for the search for chromosomal anomalies in tumor pathology.

      Main analyzes

      • Karyotypes
      • In Situ Hybridization (FISH),
      • Search for micro-reorganizations by CGH-array

      These techniques are applied in constitutional cytogenetics and in onco-haematological cytogenetics, from prenatal (amniotic fluid and trophoblast biopsy) , postnatal (blood) and onco-haematological (bone marrow, lymph nodes) .

      Molecular sector

      Here again are concerned the analyzes of constitutional genetics and somatic genetics (molecular genetics of cancers) :

      1- Constitutional genetics

      • Orphanet database
      • Analyzes related to the CRMR Abnormalities of calcium phosphate metabolism
      • Cystic fibrosis CFTR gene ) : activity in conjunction with the Center for Resources and Skills for Cystic Fibrosis ( CRCM ) in Caen,
      • Fragile-X syndrome (study of the FRAXA locus) : early ovarian failure and intellectual deficit,
      • Hemochromatosis (study of the HFE gene) ,
      • Léri-Weill dyschondrosteosis (study of the SHOX gene) ,
      • Female pseudohermaphroditism (aromatase gene study) ,
      • Aromatase excess syndrome (aromatase gene expression study) ,
      • Allelic quantification and search for uniparental monosomy and disomy,
      • DNA bank

      2- Somatic genetics (cancerology)

      • Bronchopulmonary cancer, melanoma, GIST ( search for activating mutations and resistance mutations on a gene panel) .
      • The laboratory has set up the search for mutations in DNA , in particular for lung cancer (ATC).
      • Molecular characterization of malignant haemopathies (myeloid haemopathies, B lymphomas) by NGS

       Nucleic acid sequencing platform

      • The laboratory hosts the nucleic acid sequencing platform for all the laboratories of the biology center.
      • The high-throughput sequencer (NGS) allows the study of panels of genes involved in certain rare pathologies for which the laboratory is a national reference, it also allows the analysis of the coding regions of the genome: the exome.

      This platform is under the responsibility of Nicolas Richard , Guenaëlle Levallet , François Gravey and Nadia Coudray , engineer.

      LBMR !

      The Genetics laboratory is a Reference Medical Biology Laboratory ( LBMR ) for calcium phosphate metabolism abnormalities and extremity abnormalities (brachymetacarpy and brachydactyly)

    • Reference centers, competence & platforms

    • Teaching and research

      Education

      The genetics department also participates in the training of students in medicine, pharmacy, genetic counselling, interns in medicine or biology specialties and contributes to the medical training of specialists and post-graduate education.

      Research

      The hospital activity is extended by a research activity at the University of Caen Normandy, mainly within the BioTARGen team.

    • The latest news related to the service…

    Medical biology laboratory

    Medical biology laboratory

    The directory of medical biology analyzes of the CHU Caen Normandie is available here.

    Locate / contact service

    Genetic

    Building Biology Research

    Avenue de la Côte de Nacre
    CS 30001
    14033 Caen cedex 9


    Genetic


    Level GPS accessCar park Hall E-mail
    Laboratory Service
    Building Biology Research
    Level : 1
    GPS Access: BBR Public
    Car Park: Car Park 2
    Access Building Biology Research
    Consulting
    Côte de Nacre Tower
    Level : 1
    GPS access: Côte de Nacre
    Car Park: Car Park 2
    North Entrance Côte de Nacre