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TPMT Mutation Analysis details
What TPMT Mutation Analysis shows
The TPMT gene carries instructions for thiopurine S-methyltransferase, an enzyme that helps break down thiopurine medicines such as azathioprine and mercaptopurine. This genetic test looks for common variants in the gene that reduce how well the enzyme works. It is used in pharmacogenomic testing so your clinician can consider how you are likely to handle these medicines. Having one or two reduced-function variants can mean the enzyme is less active, which can increase the risk of side effects at standard doses. This is a lifelong variant, not a level that changes, and the test may not detect rare variants.
Tests that include TPMT Mutation Analysis
Pharmacogenomics Panel reporting genotype/phenotype only. Genetics can play a significant role in the selection of certain medications. For instance, individuals may metabolize medications too fast or too slow. This test analyzes genes of known pharmacogenomic value allowing clinicians to gain valuable insight into an individual's response to and adverse effects from medications with known gene-drug interactions. For reporting that includes medication guidance please reference: Pharmacogenomics panel with Coriell Life Sciences (CLS) Report, test code 14271.
Biomarkers
- ABCG2 Genotype Identifies which inherited variants you carry in the ABCG2 gene, which affects how certain medicines and uric acid are moved out of cells.
- ABCG2 Phenotype A predicted ABCG2 transporter function, such as normal or decreased, interpreted from your ABCG2 genotype to help guide choices about certain medicines.
- CYP2B6 Genotype Identifies inherited variants in the CYP2B6 gene, which helps break down several medicines in the liver, to help predict how your body may handle certain medications.
- CYP2B6 Phenotype Your predicted CYP2B6 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP2C19 Genotype Identifies inherited variants in the CYP2C19 gene, which helps break down or activate many common medicines, to help predict how your body may handle certain medications.
- CYP2C19 Phenotype Your predicted CYP2C19 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP2C9 Genotype Identifies inherited variants in the CYP2C9 gene, which helps break down a range of medicines, to help predict how your body may handle certain medications.
- CYP2C9 Phenotype Your predicted CYP2C9 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP2D6 Genotype Identifies inherited variants in the CYP2D6 gene, which helps break down or activate many widely used medicines, to help predict how your body may handle certain medications.
- CYP2D6 Phenotype Your predicted CYP2D6 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP3A4 Genotype Identifies inherited variants in the CYP3A4 gene, which helps break down a large share of all prescribed medicines, to help predict how your body may handle certain medications.
- CYP3A4 Phenotype Your predicted CYP3A4 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP3A5 Genotype Identifies inherited variants in the CYP3A5 gene, which helps break down a number of medicines, working alongside CYP3A4, to help predict how your body may handle certain medications.
- CYP3A5 Phenotype Your predicted CYP3A5 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP4F2 Genotype Identifies inherited variants in the CYP4F2 gene, which helps clear vitamin K, and is mainly used to help guide warfarin therapy.
- CYP4F2 Phenotype Your predicted CYP4F2 enzyme function, worked out from your genotype, mainly used with other genes to help guide warfarin therapy.
- DPYD Mutation Analysis Looks for inherited variants in the DPYD gene, which affect how your body breaks down fluoropyrimidine chemotherapy drugs such as fluorouracil and capecitabine.
- DPYD Phenotype Your predicted DPD enzyme activity, worked out from your DPYD genotype, which helps estimate how you may handle fluorouracil and capecitabine chemotherapy.
- F5 Phenotype A summary of your predicted Factor V status based on your F5 gene result, showing whether you carry the Factor V Leiden variant linked to clotting risk.
- Factor V (F5), DNA Analysis A genetic test for the Factor V Leiden variant in the F5 gene, an inherited change that can increase the tendency to form blood clots.
- HLA A*31:01 Genotype A pharmacogenomic test showing whether you carry the HLA-A*31:01 gene variant, which is linked to a higher risk of serious reactions to carbamazepine.
- HLA A*31:01 Phenotype The interpreted result of HLA-A*31:01 testing, stating whether you carry this variant linked to a higher risk of serious reactions to carbamazepine.
- HLA B*15:02 Genotype A pharmacogenomic test showing whether you carry the HLA-B*15:02 gene variant, which is linked to severe skin reactions to carbamazepine and related medicines.
- HLA B*15:02 Phenotype The interpreted result of HLA-B*15:02 testing, stating whether you carry this variant linked to severe skin reactions to carbamazepine and related medicines.
- HLA B*57:01 Genotype A pharmacogenomic test showing whether you carry the HLA-B*57:01 gene variant, which is strongly linked to hypersensitivity reactions to the HIV medicine abacavir.
- HLA B*57:01 Phenotype The interpreted result of HLA-B*57:01 testing, stating whether you carry this variant strongly linked to hypersensitivity reactions to the HIV medicine abacavir.
- HLA B*58:01 Genotype A pharmacogenomic test showing whether you carry the HLA-B*58:01 gene variant, which is linked to severe skin reactions to the gout medicine allopurinol.
- HLA B*58:01 Phenotype The interpreted result of HLA-B*58:01 testing, stating whether you carry this variant linked to severe skin reactions to the gout medicine allopurinol.
- IFNL3 Genotype A pharmacogenomic test reporting your IFNL3 (IL28B) gene variant, which has been linked to how well hepatitis C responds to interferon-based treatment.
- IFNL3 Phenotype The interpreted result of IFNL3 (IL28B) testing, describing whether your genotype is linked to a more or less favourable response to interferon-based hepatitis C treatment.
- NAT2 Genotype Identifies inherited variants in the NAT2 gene, which affect how quickly your body processes certain medicines such as isoniazid and hydralazine.
- NAT2 Phenotype Your predicted NAT2 acetylator status (slow, intermediate or rapid), derived from your NAT2 genotype, which affects how you process certain medicines.
- NUDT15 Mutation Analysis Looks for inherited variants in the NUDT15 gene, which affect how your body handles thiopurine medicines such as azathioprine and mercaptopurine.
- NUDT15 Phenotype Your predicted NUDT15 metabolizer status, derived from your NUDT15 genotype, which helps predict your response to thiopurine medicines.
- SLCO1B1 Mutation Analysis Genetic test of the SLCO1B1 gene, which affects how your liver takes up statins, used to help predict the risk of statin-related muscle side effects.
- SLCO1B1 Phenotype Your predicted SLCO1B1 transporter function, based on your genotype, used to help guide statin choice and dosing decisions with your prescriber.
- TPMT Mutation Analysis Identifies inherited variants in the TPMT gene, which affect how your body breaks down thiopurine medicines; it is a lifelong genetic result.
- TPMT Phenotype The predicted TPMT enzyme activity, such as normal, intermediate or poor metabolizer, worked out from your TPMT genotype result.
- UGT1A1 Genotype Identifies inherited variants in the UGT1A1 gene, which affect how your body processes bilirubin and some medicines; it is a lifelong genetic result.
- UGT1A1 Phenotype The predicted UGT1A1 enzyme activity, such as normal, intermediate or poor metabolizer, worked out from your UGT1A1 genotype.
- VKORC1 Genotype Identifies inherited variants in the VKORC1 gene, which affect sensitivity to the blood thinner warfarin; it is a lifelong genetic result.
- VKORC1 Phenotype The predicted sensitivity to warfarin, such as normal or increased, worked out from your VKORC1 genotype result.
Genetics can play a significant role in the selection of certain medications. For instance, individuals may metabolize medications too fast or too slow. This test analyzes genes of known pharmacogenomic value allowing clinicians to gain valuable insight into an individual's response to and adverse effects from medications with known gene-drug interactions. In partnership with Coriell Life Sciences, this test offers an enhanced report providing medication guidance and clinical annotation based on the genetic results provided by Quest Diagnostics.
Biomarkers
- ABCG2 Genotype Identifies which inherited variants you carry in the ABCG2 gene, which affects how certain medicines and uric acid are moved out of cells.
- ABCG2 Phenotype A predicted ABCG2 transporter function, such as normal or decreased, interpreted from your ABCG2 genotype to help guide choices about certain medicines.
- CYP2B6 Genotype Identifies inherited variants in the CYP2B6 gene, which helps break down several medicines in the liver, to help predict how your body may handle certain medications.
- CYP2B6 Phenotype Your predicted CYP2B6 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP2C19 Genotype Identifies inherited variants in the CYP2C19 gene, which helps break down or activate many common medicines, to help predict how your body may handle certain medications.
- CYP2C19 Phenotype Your predicted CYP2C19 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP2C9 Genotype Identifies inherited variants in the CYP2C9 gene, which helps break down a range of medicines, to help predict how your body may handle certain medications.
- CYP2C9 Phenotype Your predicted CYP2C9 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP2D6 Genotype Identifies inherited variants in the CYP2D6 gene, which helps break down or activate many widely used medicines, to help predict how your body may handle certain medications.
- CYP2D6 Phenotype Your predicted CYP2D6 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP3A4 Genotype Identifies inherited variants in the CYP3A4 gene, which helps break down a large share of all prescribed medicines, to help predict how your body may handle certain medications.
- CYP3A4 Phenotype Your predicted CYP3A4 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP3A5 Genotype Identifies inherited variants in the CYP3A5 gene, which helps break down a number of medicines, working alongside CYP3A4, to help predict how your body may handle certain medications.
- CYP3A5 Phenotype Your predicted CYP3A5 metabolizer status, worked out from your genotype, which helps estimate how you may process certain medications.
- CYP4F2 Genotype Identifies inherited variants in the CYP4F2 gene, which helps clear vitamin K, and is mainly used to help guide warfarin therapy.
- CYP4F2 Phenotype Your predicted CYP4F2 enzyme function, worked out from your genotype, mainly used with other genes to help guide warfarin therapy.
- DPYD Mutation Analysis Looks for inherited variants in the DPYD gene, which affect how your body breaks down fluoropyrimidine chemotherapy drugs such as fluorouracil and capecitabine.
- DPYD Phenotype Your predicted DPD enzyme activity, worked out from your DPYD genotype, which helps estimate how you may handle fluorouracil and capecitabine chemotherapy.
- F5 Phenotype A summary of your predicted Factor V status based on your F5 gene result, showing whether you carry the Factor V Leiden variant linked to clotting risk.
- Factor V (F5), DNA Analysis A genetic test for the Factor V Leiden variant in the F5 gene, an inherited change that can increase the tendency to form blood clots.
- HLA A*31:01 Genotype A pharmacogenomic test showing whether you carry the HLA-A*31:01 gene variant, which is linked to a higher risk of serious reactions to carbamazepine.
- HLA A*31:01 Phenotype The interpreted result of HLA-A*31:01 testing, stating whether you carry this variant linked to a higher risk of serious reactions to carbamazepine.
- HLA B*15:02 Genotype A pharmacogenomic test showing whether you carry the HLA-B*15:02 gene variant, which is linked to severe skin reactions to carbamazepine and related medicines.
- HLA B*15:02 Phenotype The interpreted result of HLA-B*15:02 testing, stating whether you carry this variant linked to severe skin reactions to carbamazepine and related medicines.
- HLA B*57:01 Genotype A pharmacogenomic test showing whether you carry the HLA-B*57:01 gene variant, which is strongly linked to hypersensitivity reactions to the HIV medicine abacavir.
- HLA B*57:01 Phenotype The interpreted result of HLA-B*57:01 testing, stating whether you carry this variant strongly linked to hypersensitivity reactions to the HIV medicine abacavir.
- HLA B*58:01 Genotype A pharmacogenomic test showing whether you carry the HLA-B*58:01 gene variant, which is linked to severe skin reactions to the gout medicine allopurinol.
- HLA B*58:01 Phenotype The interpreted result of HLA-B*58:01 testing, stating whether you carry this variant linked to severe skin reactions to the gout medicine allopurinol.
- IFNL3 Genotype A pharmacogenomic test reporting your IFNL3 (IL28B) gene variant, which has been linked to how well hepatitis C responds to interferon-based treatment.
- IFNL3 Phenotype The interpreted result of IFNL3 (IL28B) testing, describing whether your genotype is linked to a more or less favourable response to interferon-based hepatitis C treatment.
- NAT2 Genotype Identifies inherited variants in the NAT2 gene, which affect how quickly your body processes certain medicines such as isoniazid and hydralazine.
- NAT2 Phenotype Your predicted NAT2 acetylator status (slow, intermediate or rapid), derived from your NAT2 genotype, which affects how you process certain medicines.
- NUDT15 Mutation Analysis Looks for inherited variants in the NUDT15 gene, which affect how your body handles thiopurine medicines such as azathioprine and mercaptopurine.
- NUDT15 Phenotype Your predicted NUDT15 metabolizer status, derived from your NUDT15 genotype, which helps predict your response to thiopurine medicines.
- SLCO1B1 Mutation Analysis Genetic test of the SLCO1B1 gene, which affects how your liver takes up statins, used to help predict the risk of statin-related muscle side effects.
- SLCO1B1 Phenotype Your predicted SLCO1B1 transporter function, based on your genotype, used to help guide statin choice and dosing decisions with your prescriber.
- TPMT Mutation Analysis Identifies inherited variants in the TPMT gene, which affect how your body breaks down thiopurine medicines; it is a lifelong genetic result.
- TPMT Phenotype The predicted TPMT enzyme activity, such as normal, intermediate or poor metabolizer, worked out from your TPMT genotype result.
- UGT1A1 Genotype Identifies inherited variants in the UGT1A1 gene, which affect how your body processes bilirubin and some medicines; it is a lifelong genetic result.
- UGT1A1 Phenotype The predicted UGT1A1 enzyme activity, such as normal, intermediate or poor metabolizer, worked out from your UGT1A1 genotype.
- VKORC1 Genotype Identifies inherited variants in the VKORC1 gene, which affect sensitivity to the blood thinner warfarin; it is a lifelong genetic result.
- VKORC1 Phenotype The predicted sensitivity to warfarin, such as normal or increased, worked out from your VKORC1 genotype result.
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