Molecular Diagnostics

Molecular Diagnostics Program

The Molecular Diagnostics Program is part of the Pathology and Laboratory Medicine (PaLM) Program at the London Health Sciences Centre (LHSC). The program provides genetic testing services for southwestern Ontario (LIHN 1 and 2 in particular) and Canada at large. The team consists of 3 divisions: the Cytogenetics Laboratory and the Molecular Genetics Laboratory and also includes the Biochemical Genetics Laboratory (part of Specialty Biochemistry). The PhD Geneticists are credentialed through the Canadian College of Medical Geneticists (CCMG) and/or the American Board of Medical Genetics and Genomics (ABMGG) and interpret final results. The Technologists on the team are Medical Laboratory Technologists (MLT) in Cytogenetics and/or Molecular Genetics, licensed by the College of Medical Laboratory Technologists of Ontario (CMLTO) with certification from the Canadian Society for Medical Laboratory Science (CSMLS). The Division Laboratories are accredited through the Institute for Quality Management in Healthcare (IQMH) and participate in EQA programs such as CAP, QMPLS and ERNDM.

The program has academic affiliations with the University of Western Ontario and Michener Institute of Applied Health Sciences.

The Genetics Laboratories offer a wide range of testing where the results by physicians and other healthcare providers (oncologists, pathologists, paediatricians, geneticists, haematologists, neurologists, etc.) are used for diagnosis, prognosis and/or directing treatment of their patients.

Molecular Genetics: This Laboratory tests for inherited and acquired diseases by identification and tracking of associated DNA and RNA (nucleotide) alterations in genes. Testing and methodologies offered include:

• Hereditary Cancer gene Panels, Epilepsy panels, Charcot-Marie-Tooth panels, Mitochondrial Genome Sequencing, Familial Dyslipidemia testing, Individual genes and more.
• Genes for haematological cancers (leukaemia) and solid tumours.
• Next Generation Sequencing (NGS) using lab developed targeted gene panels.
• Sanger sequencing and MLPA, Q-PCR or other copy number methods are used for confirmatory testing.
• Types of specimens processed usually include blood, bone marrow, solid tumours.

Cytogenetics: This Laboratory tests for inherited and acquired diseases in relation to the structure and function of chromosomes, genomic copy number variants and genes. This is a full service cytogenetics laboratory that tests prenatal, postnatal and cancer samples. Testing and methodologies offered include:

• Chromosomal karyotyping for constitutional genetic disorders and cancer.
• Genome MicroArray testing for copy number variant (CNV) detection
• Fluorescence in situ hybridization (F.I.S.H.) with disease specific probes
• QF-PCR for common aneuploidy detection in prenatal/postnatal samples.
• Types of specimens processed include blood, amniotic fluid, chorionic villi, skin, products of conception, bone marrow, solid tumours, and others.

Biochemical Genetics: The Biochemical Genetics laboratory provides testing and result interpretation for the diagnosis, clinical management and study of patients with inherited metabolic diseases. The laboratory is the referral centre for southwestern Ontario and provides specialized testing for Ontario and other provinces.

• Metabolite analyses including aminoacids, urine organic acids, free and acylcarnitine, urine mucopolysaccharides (quantitative and characterization), urine oligosaccharides, erythrocyte galactose and galactose -1- phosphate, urine pterins, leukocyte cysteine,and others
• Enzymatic assays: biotinidase, dried blood spot galactose-1-phosphate uridyltransferase, mitochondrial respiratory chain complexes, many lysosomal storage diseases and others
• Mutation analysis: NGS panels and Sanger sequencing of many of the diseases identified by the metabolite and enzymatic analyses including urea cycle diseases, lysosomal storage diseases including cystinosis, mitochondrial DNA diseases and others.

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