Oncogenetics – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsPIK3CA Gene Mutations

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...

Genetic TestsAR-V7 Genetic Test

Test Name & Code: • Test Name: AR-V7 Genetic Test • Test Code: 5547 Related Diseases & Genes: • “Prostate cancer, susceptibility to” (OMIM #: 176807) Synonyms: -none- Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Fresh tissue; Paraffin tissue; Peripheral blood; Bone marrow aspiration material...

Genetic TestsNF2 Gene Sequencing

Test Name & Code: • Test Name: NF2 Gene Sequencing • Test Code: 4817 Related Diseases & Genes: • “Meningioma, NF2-related, somatic” (OMIM #: 607174) || Gene: NF2 (OMIM #: 607379) • “Neurofibromatosis, type 2” (OMIM #: 101000) • Schwannomatosis (OMIM #: 162091) Synonyms: • MERLIN • SCHWANNOMIN • SCH • NEUROFIBROMIN 2 Test Details:...

Genetic TestsWhole Exome Sequencing (WES)

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...

Genetic TestsBRCA2 Deletion/Duplication Analysis

Test Name & Code: • Test Name: BRCA2 Deletion/Duplication Analysis • Test Code: 4688 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA2 (OMIM #: 600185) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) Synonyms: • Breast Cancer Susceptibility Test • Familial Breast Cancer Test Details: • Methodology: MLPA...

Genetic TestsBRCA1 Deletion/Duplication Analysis

Test Name & Code: • Test Name: BRCA1 Deletion/Duplication Analysis • Test Code: 4687 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA1 (OMIM #: 113705) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) Synonyms: • Breast Cancer Susceptibility Test • Familial Breast Cancer Test Details: • Methodology: MLPA...

Genetic TestsROS1 Fusion mutations

Test Name & Code: • Test Name: ROS1 Fusion mutations • Test Code: 4681 Related Diseases & Genes: • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) || Gene: ROS1 (OMIM #: 165020) Synonyms: • V-ROS AVIAN UR2 SARCOMA VIRUS ONCOGENE HOMOLOG 1 • ONCOGENE ROS • ROS • MCF3...

Genetic TestsPOLE Mutations

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 •...

Genetic TestsFOXO1 Fusion Mutations

Test Name & Code: • Test Name: FOXO1 Fusion Mutations • Test Code: 4665 Related Diseases & Genes: • “Rhabdomyosarcoma, alveolar” (OMIM #: 268220) || Gene: FOXO1 (OMIM #: 136533) Synonyms: • FORKHEAD IN RHABDOMYOSARCOMA; FKHR • “FORKHEAD, DROSOPHILA, HOMOLOG OF, IN RHABDOMYOSARCOMA” • “FKHR/PAX7 FUSION GENE, INCLUDED” Test Details: • Methodology: FISH • Performed:...

Genetic TestsROS1 Amplifications

Test Name & Code: • Test Name: ROS1 Amplifications • Test Code: 4645 Related Diseases & Genes: • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) || Gene: ROS1 (OMIM #: 165020) Synonyms: • V-ROS AVIAN UR2 SARCOMA VIRUS ONCOGENE HOMOLOG 1 • ONCOGENE ROS • ROS • MCF3 Test...

Genetic TestsMET Amplifications

Test Name & Code: • Test Name: MET Amplifications • Test Code: 4644 Related Diseases & Genes: • “Hepatocellular carcinoma, childhood type” (OMIM #: 114550) || Gene: MET (OMIM #: 164860) • “Renal cell carcinoma, papillary, familial and somatic” (OMIM #: 605074) Synonyms: • MET PROTOONCOGENE • HEPATOCYTE GROWTH FACTOR RECEPTOR (HGFR) Test Details: •...

Genetic TestsPTEN Deletion

Test Name & Code: • Test Name: PTEN Deletion • Test Code: 4642 Related Diseases & Genes: • Bannayan-Riley-Ruvalcaba syndrome (OMIM #: 153480) || Gene: PTEN (OMIM #: 601728) • Cowden syndrome 1 (OMIM #: 158350) • Endometrial carcinoma, somatic (OMIM #: 608089) • Lhermitte-Duclos syndrome (OMIM #: 158350) Synonyms: • PHOSPHATASE AND TENSIN HOMOLOG...

Genetic TestsRREB1 (6q25) Amplifications

Test Name & Code: • Test Name: RREB1 (6q25) Amplifications • Test Code: 4641 Related Diseases & Genes: • “Bladder cancer, somatic” (OMIM #: 109800) || Gene: RREB1 (OMIM #: 602209) • “Prostate cancer, somatic” (OMIM #: 176807) Synonyms: • RAS-RESPONSIVE ELEMENT BINDING PROTEIN 1 • RREB-1 Test Details: • Methodology: FISH • Performed: Everyday...

Genetic TestsFGFR1 Amplifications

Test Name & Code: • Test Name: FGFR1 Amplifications • Test Code: 4640 Related Diseases & Genes: • “Breast cancer, somatic” || Gene: FGFR1 (OMIM #: 136350) • “Nonsmall cell lung cancer, somatic” • “Prostate cancer, somatic” (OMIM #: 176807) Synonyms: • Fibroblast Growth Factor Receptor 1 Test Details: • Methodology: FISH • Performed: Everyday...

Genetic TestsCCND1 (11Q13) Rearrangement

Test Name & Code: • Test Name: CCND1 (11Q13) Rearrangement • Test Code: 4635 Related Diseases & Genes: • B cell lymphoma || Gene: CCND1 (OMIM #: 168461) Synonyms: • B-cell leukemia/lymphoma 1 • Cyclin D1 • B-Cell Leukemia 1 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: •...

Genetic TestsMYC (8Q24) Rearrangement

Test Name & Code: • Test Name: MYC (8Q24) Rearrangement • Test Code: 4634 Related Diseases & Genes: • Burkitt Lymphoma (OMIM #: 113970) || Gene: MYC (OMIM #: 190080) Synonyms: • MYC Rearrangement (FISH) • B-cell leukemia • B-cell lymphoma 1 Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen...

Genetic TestsDDIT3 Rearrangements

Test Name & Code: • Test Name: DDIT3 Rearrangements • Test Code: 4487 Related Diseases & Genes: • Myxoid liposarcoma (OMIM #: 613488) || Gene: DDIT3 (OMIM #: 126337) Synonyms: • DNA DAMAGE-INDUCIBLE TRANSCRIPT 3 • C/EBP-HOMOLOGOUS PROTEIN • CHOP • GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD153 • GADD153 Test Details: • Methodology: FISH...

Genetic TestsEWSR1 Rearrangements

Test Name & Code: • Test Name: EWSR1 Rearrangements • Test Code: 4486 Related Diseases & Genes: • Ewing sarcoma (OMIM #: 612219) || Gene: EWSR1 (OMIM #: 133450) • Neuroepithelioma (OMIM #: 612219) • Synovial Sarcoma Synonyms: • EWING SARCOMA BREAKPOINT REGION 1 • EWS Test Details: • Methodology: FISH • Performed: Everyday •...

Genetic TestsSS18 Rearrangements

Test Name & Code: • Test Name: SS18 Rearrangements • Test Code: 4485 Related Diseases & Genes: • Synovial Sarcoma (OMIM #: )|| Gene: SS18 (OMIM #: 600192) Synonyms: • “SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18” • “SYNOVIAL SARCOMA, TRANSLOCATED TO X CHROMOSOME” • SSXT • SYT Test Details: • Methodology: FISH • Performed: Everyday •...

Genetic TestsIGH/MALT1 Fussion

Test Name & Code: • Test Name: IGH/MALT1 Fussion • Test Code: 4484 Related Diseases & Genes: • Malt Lymphoma || Gene: MALT1 (OMIM #: 604860) Synonyms: • MUCOSA-ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1 • MLT • PARACASPASE Test Details: • Methodology: FISH • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen...

Genetic TestsPDGFRB Gene Mutations

Test Name & Code: • Test Name: PDGFRB Gene Mutations • Test Code: 4483 Related Diseases & Genes: • “Gastrointestinal stromal tumor, somatic” (OMIM #: 606764) || Gene: PDGFRB (OMIM #: 173410) • Myeloproliferative disorder with eosinophilia (OMIM #: 131440) • “Myofibromatosis, infantile, 1” (OMIM #: 228550) • “Basal ganglia calcification, idiopathic, 4” (OMIM #:...

Genetic TestsPDGFRA Gene Mutations

Test Name & Code: • Test Name: PDGFRA Gene Mutations • Test Code: 4482 Related Diseases & Genes: • “Gastrointestinal stromal tumor, somatic” (OMIM #: 606764) || Gene: PDGFRA (OMIM #: 173490) • “Hypereosinophilic syndrome, idiopathic, resistant to imatinib” (OMIM #: 607685) Synonyms: • “PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA” • PDGFR2 Test Details: • Methodology:...

Genetic TestsALK Gene Mutations

Test Name & Code: • Test Name: ALK Gene Mutations • Test Code: 4481 Related Diseases & Genes: • Anaplastic lymphoma (OMIM #: ) || Gene: ALK (OMIM #: 105590) • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) Synonyms: • ALK/EML4 Fusion Gene Test Details: • Methodology: RT-PCR •...

Genetic TestsNF1 Deletion/Duplication Analysis

Test Name & Code: • Test Name: NF1 Deletion/Duplication Analysis • Test Code: 4391 Related Diseases & Genes: • “NEUROFIBROMATOSIS, TYPE I” (OMIM #: 162200) || Gene: NF1 (OMIM #: 613113) Synonyms: • NF1 • NEUROFIBROMATOSIS, PERIPHERAL TYPE • VON RECKLINGHAUSEN DISEASE Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 3 weeks Specimen...

Genetic TestsHereditary NonPolyposis Colorectal Cancer (HNPCC)

Test Name & Code: • Test Name: Hereditary NonPolyposis Colorectal Cancer (HNPCC) • Test Code: 4323 Related Diseases & Genes: • “Colorectal cancer, hereditary nonpolyposis, type 1” (OMIM #: 120435) || Gene: MLH1 (OMIM #: 120436) • Lynch Syndrome I (OMIM #: 120435)|| Gene: MSH2 (OMIM #: 609309) || Gene: MSH6 (OMIM #: 600678) ||...

Genetic TestsMYCN (2p24) Amplifications

Test Name & Code: • Test Name: MYCN (2p24) Amplifications • Test Code: 4321 Related Diseases & Genes: • NEUROBLASTOMA, SUSCEPTIBILITY TO (OMIM #: 256700) || Gene: MYCN (OMIM #: 164840) Synonyms: • NMYC Oncogene • Neuroblastoma Myc Oncogene Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen...

Genetic TestsNF1 Genetic Test

Test Name & Code: • Test Name: NF1 Genetic Test • Test Code: 4260 Related Diseases & Genes: • “NEUROFIBROMATOSIS, TYPE I” (OMIM #: 162200) || Gene: NF1 (OMIM #: 613113) Synonyms: • NF1 • “NEUROFIBROMATOSIS, PERIPHERAL TYPE” • VON RECKLINGHAUSEN DISEASE Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 8 weeks...

Genetic Tests1p/19q Deletion

Test Name & Code: • Test Name: 1p/19q Deletion • Test Code: 4190 Related Diseases & Genes: • Oligodendroglioma • “NEUROBLASTOMA, SUSCEPTIBILITY TO” (OMIM #: 256700) • “BASAL CELL CARCINOMA, NONSYNDROMIC, INCLUDED” (OMIM #: 605462) Synonyms: • 1p36 deletion • 19q13 deletion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 2 weeks Specimen...

Genetic TestsKRAS Mutations

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...

Genetic TestsHereditary Cancer Panel (26 genes)

Test Name & Code: • Test Name: Hereditary Cancer Panel (26 genes) • Test Code: 4058 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA1 (OMIM #: 113705) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) || Gene: BRCA2 (OMIM #: 600185) • Li-Praumeni (OMIM #: 151623) || Gene:...

Genetic TestsPTEN Deletion/Duplication Analysis

Test Name & Code: • Test Name: PTEN Deletion/Duplication Analysis • Test Code: 4055 Related Diseases & Genes: • Bannayan-Riley-Ruvalcaba syndrome (OMIM #: 153480) || Gene: PTEN (OMIM #: 601728) • Cowden syndrome 1 (OMIM #: 158350) • “Endometrial carcinoma, somatic” (OMIM #: 608089) • Lhermitte-Duclos syndrome (OMIM #: 158350) Synonyms: • PHOSPHATASE AND TENSIN...

Genetic TestsMEN1 Sequencing

Test Name & Code: • Test Name: MEN1 Sequencing • Test Code: 4015 Related Diseases & Genes: • “MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1” (OMIM #: 131100) || Gene: MEN1 (OMIM #: 613733) • “Adrenal adenoma, somatic” • “Angiofibroma, somatic” • Carcinoid tumor of lung • “Parathyroid adenoma, somatic” Synonyms: • MENIN • “ENDOCRINE ADENOMATOSIS,...

Genetic TestsEGFR Amplifications

Test Name & Code: • Test Name: EGFR Amplifications • Test Code: 4014 Related Diseases & Genes: • “Adenocarcinoma of the 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...

Genetic TestsBRAF Amplifications

Test Name & Code: • Test Name: BRAF Amplifications • Test Code: 4009 Related Diseases & Genes: • “Melanoma, malignant, somatic” || Gene: BRAF (OMIM #: 164757) • “Nonsmall cell lung cancer, somatic” • “Adenocarcinoma of lung, somatic” (OMIM #: 211980) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week...

Genetic TestsIDH2 exon 4 Analysis

Test Name & Code: • Test Name: IDH2 exon 4 Analysis • Test Code: 3970 Related Diseases & Genes: • “Glioma, susceptibility to, somatic” (OMIM #: 137800) || Gene: IDH2 (OMIM #: 147650) • “Leukemia, acute myeloid” (OMIM #: 601626) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: • ISOCITRATE DEHYDROGENASE 2 • “SOCITRATE DEHYDROGENASE,...

Genetic TestsIDH1 exon 4 Analysis

Test Name & Code: • Test Name: IDH1 exon 4 Analysis • Test Code: 3969 Related Diseases & Genes: • “Glioma, susceptibility to, somatic” (OMIM #: 137800) || Gene: IDH1 (OMIM #: 147700) • “Leukemia, acute myeloid” (OMIM #: 601626) • MYELODYSPLASTIC SYNDROME; MDS (OMIM #: 614286) Synonyms: • ISOCITRATE DEHYDROGENASE 1 Test Details: •...

Genetic TestsEWS-FLI1 t(11;22) (PNET) RT-PCR

Test Name & Code: • Test Name: EWS-FLI1 t(11;22) (PNET) RT-PCR • Test Code: 3911 Related Diseases & Genes: • Ewing sarcoma (OMIM #: 612219) || Gene: EWSR1 (OMIM #: 133450) • Neuroepithelioma (OMIM #: 612219) Synonyms: • EWS/FLI1 Fusion Gene Test Details: • Methodology: RT-PCR • Performed: Thursdays • Reported: 1 week Specimen Details:...

Genetic TestsBladder Cancer Genetic Screen (UROVYSION)

Test Name & Code: • Test Name: Bladder Cancer Genetic Screen (UROVYSION) • Test Code: 3801 Related Diseases & Genes: • “Bladder cancer, somatic” (OMIM #: 109800) Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Urine • Container: Sterile Urine Sample Container (will be...

Genetic TestsHER2 Mutations

Test Name & Code: • Test Name: HER2 Mutations • Test Code: 3799 Related Diseases & Genes: • “Breast cancer, somatic” || Gene: ERBB2 (OMIM #: 164870) • “Nonsmall cell lung cancer, somatic” Synonyms: -none- Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Fresh Tissue; Paraffin...

Genetic TestsPTEN Point Mutations

Test Name & Code: • Test Name: PTEN Point Mutations • Test Code: 3735 Related Diseases & Genes: • Bannayan-Riley-Ruvalcaba syndrome (OMIM #: 153480) || Gene: PTEN (OMIM #: 601728) • Cowden syndrome 1 (OMIM #: 158350) • Endometrial carcinoma, somatic (OMIM #: 608089) • Lhermitte-Duclos syndrome (OMIM #: 158350) Synonyms: • PHOSPHATASE AND TENSIN...

Genetic Tests19q Deletion

Test Name & Code: • Test Name: 19q Deletion • Test Code: 3733 Related Diseases & Genes: • Oligodendroglioma Synonyms: • 19q13 deletion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Tumour Tissue • Container: “Fresh tissue in a sterile tube; or, Paraffin block” Testing Area(s):...

Genetic Tests1p Deletion

Test Name & Code: • Test Name: 1p Deletion • Test Code: 3732 Related Diseases & Genes: • Oligodendroglioma • “NEUROBLASTOMA, SUSCEPTIBILITY TO” (OMIM #: 256700) • “BASAL CELL CARCINOMA, NONSYNDROMIC, INCLUDED” (OMIM #: 605462) Synonyms: • 1p36 deletion Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen...

Genetic TestsHRAS Mutations

Test Name & Code: • Test Name: HRAS Mutations • Test Code: 3625 Related Diseases & Genes: • Congenital myopathy with excess of muscle spindles (OMIM #: 218040) || Gene: HRAS (OMIM #: 190020) • Costello syndrome (OMIM #: 218040) • Bladder cancer, somatic (OMIM #: 109800) • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (OMIM #: 163200)...

Genetic TestsWilms Tumor (WT1 Gene) Sequence Analysis

Test Name & Code: • Test Name: Wilms Tumor (WT1 Gene) Sequence Analysis • Test Code: 3620 Related Diseases & Genes: • Denys-Drash syndrome (OMIM #: 194080) || Gene: WT1 (OMIM #: 607102) • Frasier syndrome (OMIM #: 136680) • Meacham syndrome (OMIM #: 608978) • Mesothelioma, somatic (OMIM #: 156240) • Wilms tumor, type...

Genetic TestsMGMT Gene Methylation Analysis

Test Name & Code: • Test Name: MGMT Gene Methylation Analysis • Test Code: 3467 Related Diseases & Genes: • Response to temozolomide in low-grade gliomas || Gene: MGMT (OMIM #: 156569) • Prognostic significance in colorectal cancer Synonyms: • METHYLGUANINE-DNA METHYLTRANSFERASE Test Details: • Methodology: MLPA • Reported: 3 weeks Specimen Details: • Specimen...

Genetic TestsPCA3

Test Name & Code: • Test Name: PCA3 • Test Code: 3410 Related Diseases & Genes: • “Prostate cancer, somatic” (OMIM #: 176807) || Gene: PCA3 (OMIM #: 604845) Synonyms: • PROSTATE CANCER ANTIGEN 3 Test Details: • Methodology: qRT-PCR • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Urine (following RT)...

Genetic TestsNRAS Mutations

Test Name & Code: • Test Name: NRAS Mutations • Test Code: 3405 Related Diseases & Genes: • Autoimmune lymphoproliferative syndrome type IV (OMIM #: 614470) || Gene: NRAS (OMIM #: 164790) • Colorectal cancer, somatic (OMIM #: 114500) • Epidermal nevus, somatic (OMIM #: 162900) • Noonan syndrome 6 (OMIM #: 613224) Synonyms: •...

Genetic TestsRET Mutations

Test Name & Code: • Test Name: RET Mutations • Test Code: 3404 Related Diseases & Genes: • Multiple endocrine neoplasia IIA (OMIM #: 171400) || Gene: RET (OMIM #: 164761) • Multiple endocrine neoplasia IIB (OMIM #: 162300) • Medullary thyroid carcinoma (OMIM #: 155240) Synonyms: • Rearranged During Transfection Protooncogene • RET Protooncogene...

Genetic TestsNonSmall Cell Lung Cancer Genetic Panel

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:...

Genetic TestsBRCA1 and BRCA2 Gene Mutations

Test Name & Code: • Test Name: BRCA1 and BRCA2 Gene Mutations • Test Code: 3209 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA1 (OMIM #: 113705) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) || Gene: BRCA2 (OMIM #: 600185) Synonyms: • BRCA1 Whole Gene Sequence Analysis...

Genetic TestsALK (2p23) Mutations

Test Name & Code: • Test Name: ALK (2p23) Mutations • Test Code: 2981 Related Diseases & Genes: • Anaplastic lymphoma || Gene: ALK (OMIM #: 105590) • Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in (OMIM #: 211980) Synonyms: • ALK/EML4 Fusion Gene Test Details: • Methodology: FISH • Performed: Everyday •...

Genetic TestsBRAF Gene V600E Mutation

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...

Genetic TestsEGFR Gene Mutations

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...

Genetic TestsTP53 Gene Sequence Analysis

Test Name & Code: • Test Name: TP53 Gene Sequence Analysis • Test Code: 2390 Related Diseases & Genes: • Adrenal cortical carcinoma (OMIM #: 202300) || Gene: TP53 (OMIM #: 191170) • Breast cancer (OMIM #: 114480) • Choroid plexus papilloma (OMIM #: 260500) • Colorectal cancer (OMIM #: 114500) Synonyms: • TUMOR PROTEIN...

Genetic TestsHER2/NEU/TopoIIa

Test Name & Code: • Test Name: HER2/NEU/TopoIIa • Test Code: 2386 Related Diseases & Genes: • Breast cancer, somatic || Gene: ERBB2 (OMIM #: 164870) • Nonsmall cell lung cancer, somatic Synonyms: • ERBB2 Amplification • HER2 Amplification • TOPO2A Amplification Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen...

Genetic TestsCKIT Mutations

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...

Genetic TestsMicrosatellite Instability

Test Name & Code: • Test Name: Microsatellite Instability • Test Code: 2242 Related Diseases & Genes: • Colorectal cancer, hereditary nonpolyposis, type 1 (OMIM #: 120435) • Lynch Syndrome I (OMIM #: 120435) Synonyms: • MSI Test Details: • Methodology: PCR • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection: Tumour...

Genetic TestsE-Cadherin Mutations

Test Name & Code: • Test Name: E-Cadherin Mutations • Test Code: 2193 Related Diseases & Genes: • Gastric cancer, familial diffuse, with or without cleft lip and/or palate (OMIM #: 137215) || Gene: CDH1 (OMIM #: 192090) • Endometrial carcinoma, somatic (OMIM #: 608089) Synonyms: • CDH1 Whole Gene Sequence Analysis Test Details: •...

Genetic TestsFamilial Adenomatous Polyposis

Test Name & Code: • Test Name: Familial Adenomatous Polyposis • Test Code: 2179 Related Diseases & Genes: • Adenomatous polyposis coli (OMIM #: 175100) || Gene: APC (OMIM #: 611731) Synonyms: • Gardner Syndrome • FAP • AFAP • APC Mutations Test Details: • Methodology: PCR; DNA Sequencing • Performed: Everyday • Reported: 3...

Genetic TestsMDR1 Mutation

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...