Test Name & Code: • Test Name: PIK3CA Gene Mutations • Test Code: 5741 Related Diseases & Genes: • “Breast cancer, somatic” (OMIM #: 114480) || Gene: PIK3CA (OMIM #: 171834) • “Colorectal cancer, somatic” (OMIM #: 114500) • “Gastric cancer, somatic” (OMIM #: 613659) • “Hepatocellular carcinoma, somatic” (OMIM #: 114550) • “Nonsmall cell...
Test Name & Code: • Test Name: Imatinib Resistance Sequence Analysis • Test Code: 4810 Related Diseases & Genes: • “Leukemia, Philadelphia chromosome-positive, resistant to imatinib” || Gene: ABL1 (OMIM #: 189980) Synonyms: • ABL Gene P Loop Mutations • Gleevec Resistance • ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1 • TRANSFORMATION GENE: ONCOGENE ABL...
Test Name & Code: • Test Name: Whole Exome Sequencing (WES) • Test Code: 4778 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 9 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 5...
Test Name & Code: • Test Name: POLE Mutations • Test Code: 4670 Related Diseases & Genes: • “Colorectal cancer, susceptibility to, 12” (OMIM #: 615083) || Gene: POLE (OMIM #: 174762) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Tumour Tissue •...
Test Name & Code: • Test Name: KRAS Mutations • Test Code: 4189 Related Diseases & Genes: • “Bladder cancer, somatic” (OMIM #: 109800) || Gene: KRAS (OMIM #: 190070) • “Breast cancer, somatic” • Cardiofaciocutaneous syndrome (OMIM #: 115150) • “Gastric cancer, somatic” (OMIM #: 137215) Synonyms: • V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE...
Test Name & Code: • Test Name: HLA-B5701 • Test Code: 3875 Related Diseases & Genes: • Abacavir sensitivity || Gene: HLA-B (OMIM #: 142830) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount:...
Test Name & Code: • Test Name: Irinotecan Toxicity (UGT1A1) • Test Code: 3623 Related Diseases & Genes: • Gene: UGT1A1 (OMIM #: 191740) Synonyms: • “UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1” • UGT1A1*28 Variants • UGT1A1 6/7 Polymorphism Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen...
Test Name & Code: • Test Name: NonSmall Cell Lung Cancer Genetic Panel • Test Code: 3383 Related Diseases & Genes: • “Adenocarcinoma of lung, response to tyrosine kinase inhibitor in” (OMIM #: 211980)|| Gene: EGFR (OMIM #: 131550) • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) || Gene:...
Test Name & Code: • Test Name: Warfarin Drug Resistance • Test Code: 2601 Related Diseases & Genes: • Warfarin resistance (OMIM #: 122700) || Gene: VKORC1 (OMIM #: 608547) • Coumarin resistance (OMIM #: 122700) || Gene: CYP2C9 (OMIM #: 601130) Synonyms: • “CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9” • “VITAMIN K EPOXIDE REDUCTASE COMPLEX,...
Test Name & Code: • Test Name: BRAF Gene V600E Mutation • Test Code: 2464 Related Diseases & Genes: • Cardiofaciocutaneous syndrome (OMIM #: 115150) || Gene: BRAF (OMIM #: 164757) • Melanoma, malignant, somatic • Nonsmall cell lung cancer, somatic • Adenocarcinoma of lung, somatic (OMIM #: 211980) Synonyms: • V-RAF Murine Sarcoma Viral...
Test Name & Code: • Test Name: Thiopurine Pharmacogenetics Test (TPMT Gene) • Test Code: 2457 Related Diseases & Genes: • 6-mercaptopurine sensitivity (OMIM #: 610460) || Gene: TPMT (OMIM #: 187680) Synonyms: • THIOPURINE S-METHYLTRANSFERASE • 6-mercaptopurine toxicity • 6-mercaptopurine activity • TMPT Polymorphism • TPMT*2 allele • TPMT *3A allele Test Details: •...
Test Name & Code: • Test Name: EGFR Gene Mutations • Test Code: 2452 Related Diseases & Genes: • “Adenocarcinoma of lung, response to tyrosine kinase inhibitor in” (OMIM #: 211980) || Gene: EGFR (OMIM #: 131550) • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) Synonyms: • V-ERB-B AVIAN...
Test Name & Code: • Test Name: CKIT Mutations • Test Code: 2324 Related Diseases & Genes: • “Gastrointestinal stromal tumor, familial” (OMIM #: 606764) || Gene: KIT (OMIM #: 164920) • “Leukemia, acute myeloid” (OMIM #: 601626) Synonyms: • V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG • KIT ONCOGENE • MAST CELL GROWTH...
Test Name & Code: • Test Name: Plavix Effectiveness (CYP2C19) • Test Code: 2323 Related Diseases & Genes: Gene: CYP2C19 (OMIM #: 124020) Synonyms: • CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19 Test Details: • Methodology: RT-PCR (melting point) • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...
Test Name & Code: • Test Name: Fluorouracil Toxicity • Test Code: 2307 Related Diseases & Genes: • 5-fluorouracil toxicity (OMIM #: 274270) || Gene: DPYD (OMIM #: 612779) • Dihydropyrimidine dehydrogenase deficiency (OMIM #: 274270) Synonyms: • DPD DEFICIENCY • DPYD DEFICIENCY • DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY • 5-Fluorouracil Activity • DPD*2A Test Details: • Methodology:...
Test Name & Code: • Test Name: CYP2D6 Mutation Analysis • Test Code: 2219 Related Diseases & Genes: • Debrisoquine sensitivity (OMIM #: 608902) || Gene: CYP2D6 (OMIM #: 124030) • Codeine sensitivity (OMIM #: 608902) Synonyms: • “CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6” • “DRUG METABOLISM, POOR, CYP2D6-RELATED” Test Details: • Methodology: RT-PCR (melting...
Test Name & Code: • Test Name: MDR1 Mutation • Test Code: 1992 Related Diseases & Genes: • Multidrug resistance || Gene: ABCB1 (OMIM #: 171050) Synonyms: • MULTIDRUG RESISTANCE GENE (MDR1) • Multi Drug Resistance Test Details: • Methodology: PCR • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood...
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