Ontario Genetic Test Directory

This directory lists genetic tests available in Ontario. For tumour testing, visit the Comprehensive Cancer Biomarker Testing Program

The information in this directory is intended for informational purposes only and may not reflect all recent updates. 

Please contact the providing laboratory directly to confirm availability of testing or whether any additional information is required (for example, requisitions or sample requirements). 

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75 Results

SCID ADA

Category: Immunity, Metabolic
Subcategory: Primary immune deficiencies
Test Type: Single Gene

Smith-Lemli-Opitz Syndrome

Category: Metabolic
Subcategory: Smith-Lemli-Opitz Syndrome
Test Type: Single Gene

Succinic semialdehyde dehydrogenase deficiency

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Single Gene

Transcobalamin II Deficiency (TCN2 gene)

Category: Metabolic
Subcategory: Transcobalamin II Deficiency
Test Type: Single Gene

Tyrosinemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Tyrosinemia: Elevated Succinylacetone

Category: Metabolic
Subcategory: Tyrosinemia
Test Type: Gene Panel

Tyrosinemia: Elevated Tyrosine

Category: Metabolic
Subcategory: Tyrosinemia
Test Type: Gene Panel

Urea Cycle Diseases: All

Category: Metabolic
Subcategory: Urea Cycle Disorders
Test Type: Gene Panel

Urea Cycle Diseases: High ASA

Category: Metabolic
Subcategory: Urea Cycle Disorders
Test Type: Single Gene

Urea Cycle Diseases: High Citrulline

Category: Metabolic
Subcategory: Urea Cycle Disorders
Test Type: Gene Panel