Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Molecular and diagnostic genetics].

P Cochaux1, T Velu, M Abramowicz

  • 1Service de Génétique, Hôpital Erasme, Bruxelles.

Revue Medicale De Bruxelles
|June 1, 1990
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2025
Same author

Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR.

Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology·2023
Same author

Operational tolerance in kidney transplantation and associated biomarkers.

Clinical and experimental immunology·2017
Same author

Genome-Wide Association Study of Acute Renal Graft Rejection.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2016
Same author

Tips and tricks in triple-negative breast cancer: how to manage patients in real-life practice?

Ecancermedicalscience·2012
Same author

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.

Clinical genetics·2011
Same journal

[Breast cancer screening : a tool for informed decision making].

Revue medicale de Bruxelles·2018
Same journal

[Breast cancer screening : present situation and prospects].

Revue medicale de Bruxelles·2018
Same journal

[Guidelines in medical imaging : objectives, limits and radiation protection].

Revue medicale de Bruxelles·2018
Same journal

[How to avoid overmedicalization of the elderly patient ?]

Revue medicale de Bruxelles·2018
Same journal

[Ethical, pedagogical, socio-political and anthropological implications of quaternary prevention].

Revue medicale de Bruxelles·2018
Same journal

[New strategies in specific care for benign prostatic hypertrophy in older men].

Revue medicale de Bruxelles·2018
See all related articles

Molecular biology techniques enable carrier and prenatal diagnosis for numerous genetic disorders. Advances in the human genetic map will expand molecular diagnostic capabilities for more diseases.

Area of Science:

  • Medical Genetics
  • Molecular Biology
  • Diagnostic Medicine

Background:

  • Molecular biology advancements have enabled new diagnostic approaches.
  • Genetic disorders pose significant health challenges.
  • Accurate diagnosis is crucial for patient management and genetic counseling.

Purpose of the Study:

  • To highlight the laboratory's capabilities in carrier and prenatal diagnosis.
  • To showcase the application of molecular biology in diagnosing genetic disorders.
  • To project future expansion of molecular diagnostic services.

Main Methods:

  • Utilizing recent developments in molecular biology techniques.
  • Applying genetic mapping and molecular analysis for diagnosis.
  • Offering a range of diagnostic tests for inherited conditions.

Related Experiment Videos

Main Results:

  • The laboratory provides carrier and prenatal diagnosis for a wide array of genetic disorders.
  • Specific examples include cystic fibrosis, sickle cell anaemia, and muscular dystrophies.
  • The service spectrum is expected to grow with human genetic map advancements.

Conclusions:

  • Molecular genetics offers powerful tools for diagnosing diverse genetic disorders.
  • Continued progress in genetic mapping will broaden diagnostic applications.
  • The laboratory is positioned to expand its molecular diagnostic offerings.