Recent years have witnessed dramatic developments in the field of genetics. Sequencing technologies have advanced tremendously, thus expanding our understanding of the human genome, which in turn has fueled the development of personalized medicine, especially in the fields of oncology and immunology. In parallel, the demand for clinical genetics services including clinical assessment of patients suspected to have inherited disorders and genetic testing of these patients, has increased significantly.
Our team of specialized geneticists will provide comprehensive clinical genetics services, particularly genetic examination of patients, genetic testing and diagnosis, in addition to genetic counseling of these patients and their families. Furthermore, our department aims to become a reference center in the country, by performing genetic diagnostic testing on samples received from local healthcare providers and laboratories.
Genetic counseling and clinical diagnosis services will be provided at LAU Medical Center-Rizk Hospital in Beirut, while molecular diagnosis will be performed at LAU-Byblos Campus.
Our team of geneticists are sub-specialized in:
- Mendelian diseases: immunogenetics, neurogenetics, hearing-loss defects, retinal diseases, skeletal malformations, intellectual disabilities, neuromuscular diseases
- Chromosomal aberrations
- Clinical dysmorphology
- Human identification
- Patients seeking clinical and genetic diagnosis will be referred from various departments at the medical center, including the following:Pediatrics / Neonatology
- Obstetrics and Gynecology
- Adult and Pediatric Neurology
- Otolaryngology – Head and Neck Surgery
- Infectious Diseases
The Department of Human Genetics will collaborate closely with all departments at LAU Medical Center-RH to which patients with genetic disorders are referred. Clinical services will be provided to guide and assist physicians in the management of these cases.
Available genetic testing includes the following:
1-Prenatal genetic testing: Pregnant women are frequently referred for preconception or prenatal risk assessment. Advanced maternal age, family history concerns, abnormal ultrasound findings and positive maternal serum screening are among the reasons why physicians seek genetic counseling for their patients. The following prenatal services will be available at LAU Medical Center-RH: PGS (Preimplantation Genetic Screening for aneuploidies), NIPT (Non-Invasive Prenatal Testing), standard karyotyping, molecular karyotyping and specific testing for any monogenic disease previously identified in a family.
2-General genetic testing: Children or adults may benefit from genetic services when they present with abnormal or dysmorphic features, developmental delay, intellectual disability, infertility, or any feature that may indicate an inherited condition or syndrome. These services include: standard karyotyping, molecular karyotyping, specific testing for any monogenic disease identified in a family, gene panel testing by Next Generation Sequencing (NGS): WES (Whole Exome Sequencing) or WGS (Whole Genome Sequencing).
3-Cancer genetic testing: Genetic counseling for patients with a strong personal and/or family history of cancer can help them explore their true risks, possible genetic testing options, and risk management. The most common referrals are for patients with breast, ovarian, colorectal or uterine cancers. However, any patient with a family history of any cancer type may also benefit from genetic testing including: standard karyotyping, molecular karyotyping, specific testing for any monogenic disease identified in a family and gene panel testing by NGS.
4-Kinship and human identification testing: Our team is recognized by high-level Lebanese authorities for our expertise in human identification during mass disasters, and in determining kinship relations through paternity and maternity testing, for example. Available tests include DNA nuclear profiling such as analysis of the Y chromosome for paternal lineage, and mitochondrial profiling for maternal lineage.