Molecular genetics and genomics is a rapidly growing field in which information about alterations in one’s genome is used to diagnose, prevent and/or treat diseases. The laboratory just completed a major reorganization of the available space to meet the molecular genetics workflow requirements and is engaged in a comprehensive modernization of essential equipments that will allow the laboratory to offer services that begin to address clinician’s and patient’s needs in that specialty area.
It is anticipated that by the end of 2014, a basic menu of diagnostic tests will be available in support of the Genetic and Developmental Clinic, other specialty clinics within SQUH and beyond. At term, the laboratory will provide comprehensive molecular diagnostic services, including teaching and research in line with SQUH’s stated mission. The diseases for which molecular testing is currently available on a clinical basis are listed in the table below.
Translational Genetics and Genomics Section
In support of the activities of the Molecular Genetic s and Genomics Laboratory, the translational section is specifically mandated to:
1) Ensure that scientific discoveries and innovations in the area of genetics and genomics medicine are applied to improve service delivery and patient care;
2) Encourage clinicians and investigators with an interest in genetics and medical genomics to share their discoveries and contribute to the activities of this section;
3) Communicate to the clinical community progress and results originating from this section.
The section is actively developing molecular testing services in the following clinical areas: metabolism, dermatology and neurological/neurodevelopmental disorders. The diseases for which molecular testing is currently under development are listed in the table below.