This is any oncological neoplasm of the female reproductive system: vagina, vulva, uterus, fallopian tubes, cervix, endometrium, and ovary. Early detection of cancer improves patient outcomes, including increased survival. Our team of gynecologists, geneticists, and laboratory scientists have carefully designed diagnostic panels to include only genes with clinical action.

Tests and their benefits:

• MCGYN | MayoComplete Gynecologic Cancer Panel, Next-Generation Sequencing, Tumor

Uses targeted next-generation sequencing to determine microsatellite instability status (to guide immunotherapy decisions) and assess somatic mutations in a range of genes. Allows for a more accurate prognosis and patient response to treatment with targeted drugs.

This panel includes a list of 49 genes important for the clinical management of patients with gynecologic tumors, including endometrial, ovarian, and sex cord stromal tumors. Performed on fixed or paraffin-embedded tumor or cytology slides.

• MCECP | MayoComplete Endometrial Carcinoma Panel, Next-Generation Sequencing, Tumor

Provides diagnostic, prognostic, and therapeutic information by assessing 19 genes for somatic mutations and MSI.

• MCOCP | MayoComplete Ovarian, Fallopian Tube, and Peritoneal Cancer Panel, Next-Generation Sequencing, Tumor

Uses targeted next-generation sequencing to determine microsatellite instability status and assess somatic mutations in 10 genes. Includes DNA damage response genes including BRCA1, BRCA2.

• POLET | POLE Mutation Analysis, Next Generation Sequencing, Tumor

The test is designed to detect specific mutations in the POLE gene for the purpose of tumor diagnosis/classification.

According to statistics, it ranks third among all oncological processes in the United States, with colon cancer accounting for more than 50% of all cases of oncology of the digestive system. It has a high hereditary significance. Using our genetic panels allows you to obtain all the necessary data to select an effective treatment regimen.

Test benefits:

• Detection of single nucleotide and copy number variants in 5 genes associated with Lynch syndrome: MLH1, MSH2, MSH6, PMS2, and EPCAM.
• Perform prognostic testing in family members.
• Establish a diagnosis of Lynch syndrome to enable targeted cancer surveillance based on associated risks.
• Evaluate tumor tissue to identify patients at high risk for Lynch syndrome and to guide clinical decisions related to microsatellite instability phenotypes.

Tests:

• LYNCP | Lynch Syndrome Group, Variable
• TMSI | Microsatellite Instability, Tumor
• IHC | Mismatch Repair Protein (MMR) Immunohistochemistry Only, Tumor
• BRMLH | MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor

Next Generation Tests

MCCRC | MayoComplete Colorectal Cancer Panel, Next-Generation Sequencing, Tumor

Determines microsatellite instability status and assesses somatic mutations in the APC, BRAF, HRAS, KRAS, MLH1, MSH2, MSH6, NRAS, and PMS2 genes. Determines patient response to various targeted therapies/immunotherapies.

• KRASD | KRAS cell-free DNA 12, 13, 61, 146, blood

Rapid detection of KRAS mutations in patients with colorectal cancer as an alternative to tissue-based KRAS testing. Evaluation of cell-free DNA in blood for the presence of KRAS mutations in codons 12, 13, 61 and 146 (G12A, G12C, G12D, G12R, G12S, G12V, G13D, Q61K, Q61L, Q61R, Q61H and A146T) in patients with cancer and can be used to select targeted therapy.

ANTI-PD-L1 Immunotherapy

Anti-PD-L1 therapy is an innovative breakthrough in the treatment of malignant neoplasms. For example, the use of pembrolizumab is recommended as one of the treatment options for colorectal cancer. The results of clinical trials have shown that it is patients with defective MMR and/or high MSI that can benefit from this treatment. In this case, a test for rapid assessment of microsatellite instability will be indicated.

Tests:

• TMSI | Microsatellite instability, tumor
• IHC | Immunohistochemistry of mismatch repair protein (MMR) only, tumor 

Gastrointestinal stromal tumors

The most common mesenchymal tumors of the gastrointestinal tract, which account for 1-3% of all gastrointestinal tumors. As a rule, they are caused by a mutation in the KIT or PDGFRA gene. Our genetic panel evaluates these genes, as well as NF1, BRAF and other RAS, SETD2, TP53 genes.

Test benefits:

• Evaluation of somatic mutations in the KIT, PDGFRA, APC, BRAF, HRAS, KRAS, NF1, NRAS, PIK3CA, SETD2 and TP53 genes and to determine the status of microsatellite instability.
• Confirmation of diagnosis in patients with unusual gastrointestinal lesions.
• Diagnosis of patients with primary and metastatic gastric and esophageal cancer with or without lymph node involvement.
• Evaluation of the possibility of therapy targeting the human epidermal growth factor receptor 2 protein (trastuzumab, pertuzumab).
• Detection of neoplasms expressing the programmed cell death ligand 1 gene (clone 22C3).
• Detection of rearrangements (fusions) affecting target regions of the NTRK1, NTRK2 and NTRK3 genes.

Tests:

• MCGST | MayoComplete Gastrointestinal Stromal Tumor (GIST) Panel, Next-Generation Sequencing, Tumor
• H2GE | HER2 Amplification Associated with Gastric and Esophageal Cancer, FISH, Tissue
• 22C3 | Programmed Cell Death Ligand 1 (PD-L1) (22C3), Semiquantitative Immunohistochemistry
• NTRK | NTRK Gene Fusion Panel, Tumor • FGFR2 | FGFR2 Rearrangement (10q26.1), FISH, Tissue

A malignant tumor of melanocytes, the pigment cells that produce melanin. It most often affects the skin, less often the retina, mucous membranes, and soft tissues. One of the most dangerous human cancers, often recurring and metastasizing, aggressive. Our melanoma genetic panel evaluates 17 disease-specific genes and identifies variations associated with prognosis and tumor classification.

Test benefits:

• BAP1, BRAF, CDKN2A, CTNNB1, EIF1AX, GNA11, GNAQ, HRAS, KIT, KRAS, MAP2K1, MAP2K2, NF1, NRAS, SF3B1, TERT promoter and TP53 genes.
• Determine whether patients will respond to targeted drugs.
• Assess microsatellite instability to guide immunotherapy decisions.
• High accuracy and specificity of the test.
• Ability to distinguish malignant from benign tumors.

Tests:

• MCMLN | MayoComplete Melanoma Panel, Next-Generation Sequencing, Tumor

This is a group of malignant tumors that form from actively dividing, so-called “immature” connective tissue – bone, muscle, cartilage, fat, walls of blood and lymphatic vessels. Due to the extensive classification of sarcoma, patients are often given incorrect diagnoses and, accordingly, incorrect treatment. To avoid such cases, our laboratory offers a specific genetic panel, based on the results of which the histological, immunophenotypic and clinical characteristics of the tumor are assessed. It is also possible to get a consultation with a highly specialized specialist. 

Tests and their advantages:

• MCSRC | MayoComplete Sarcoma Panel, Next-Generation Sequencing, Tumor

Somatic mutation analysis for ALK, APC, BAP1, BCOR, BRAF, CDKN2A, CTNNB1, DICER1, EED, EGFR, FGFR4, GNA11, GNA14, GNAQ, GNAS, H3-3A, H3-3B, KIT, MDM2, MED12, MYOD1, NF1, PDGFRA, PDGFRB, PTPRD, ROS1, SMARCB1, SUZ12, TERT promoter, TP53, and TSC2. Assesses 138 gene targets for somatic gene fusions, as well as microsatellite instability status and BCOR internal tandem duplications. Helps establish a definitive diagnosis of over 50 bone and soft tissue subtypes.

• MCSMP | MayoComplete Sarcoma Mutation Panel, Next-Generation Sequencing, Tumor

Mutation analysis of 31 genes. Detection of internal tandem duplications of BCOR exon 15.

• SARCP | Sarcoma Targeted Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor

Analysis of 138 gene targets for somatic gene fusions, and assessment of common internal tandem duplications of BCOR.

• MDM2F| MDM2 Amplification (12q15), Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Detection of MDM2 amplification. Particularly useful for the diagnosis of well-differentiated liposarcoma. May be useful in low-grade osteosarcomas.

• PATHC | Pathology Consultation

Our practice is also dedicated to providing the highest quality diagnostic consultation services.

For people with cancer or a close relative with cancer, advanced genetic testing determines whether the disease runs in families. Our comprehensive Familial/Hereditary Cancer Panels use next-generation sequencing to evaluate dozens of genes. Patients diagnosed with an inherited cancer syndrome can benefit from treatment choices, personalized monitoring, and understanding of their risks.

Tests and their benefits:

• XCP | Hereditary Advanced Cancer Panel, varies

Detects single nucleotide and copy number variants in 87 genes associated with a variety of hereditary cancer syndromes, including breast, colon, gastric, paraglioma, pheochromocytoma, ovarian, pancreatic, prostate, kidney, skin, thyroid, and endometrium.

Evaluates hereditary cancers in patients with a personal or family history suggestive of a hereditary cancer syndrome. Targets cancer surveillance based on associated risks.

• COMCP | Hereditary Advanced Cancer Panel, varies

Evaluates 36 genes associated with increased risk of developing common cancers, including breast, colon, gastric, ovarian, pancreatic, prostate, skin, thyroid, endometrium, and polyposis.

Identify patients when they has a personal or family history of multiple cancers.

• BRGYP | Hereditary Breast/Gynecologic Cancer Panel, Varies 

Detects single nucleotide and copy number variants in 20 genes associated with hereditary breast and/or gynecologic cancers. Identify patients at risk of hereditary breast and gynecologic cancer syndromes.

• HBOCZ | BRCA1/BRCA2 Genes, Complete Genetic Analysis, Varies

Detects single nucleotide and copy number variants in 2 genes associated with hereditary breast and ovarian cancer syndromes: BRCA1 and BRCA2. Identify patients at risk of hereditary breast and ovarian cancer syndromes.

• CRCGP | Hereditary Gastrointestinal Cancer Panel, Varies 

Detection of single nucleotide and copy number variants in 26 genes associated with risk of hereditary colorectal cancer, gastric cancer, or polyposis. Identification of patients at risk of developing colon cancer, gastric cancer, and polyposis syndromes.

• LYNCP | Lynch Syndrome Panel, Varies

Detection of single nucleotide and copy number variants in 5 genes associated with Lynch syndrome: MLH1, MSH2, MSH6, PMS2, and EPCAM. Identification of patients at risk of Lynch syndrome.

• WILMP | Hereditary Wilms Tumor Panel, Varies

Detection of single nucleotide and copy number variants in 9 genes associated with hereditary Wilms tumor: BLM, BUB1B, CDC73, DIS3L2, GPC3, REST, TP53, TRIP13, WT1. Identify patients at risk for hereditary Wilms tumor.

• RENCP | Hereditary Kidney Cancer Panel, Varies

Detect single nucleotide and copy number variants in 19 genes associated with hereditary kidney cancer syndromes. Identify patients at risk for hereditary kidney cancer syndromes.

• PRS8P | Hereditary Prostate Cancer Panel, Varies

Detect single nucleotide and copy number variants in 18 genes associated with prostate cancer risk. Identify patients at risk for hereditary prostate cancer syndromes.

• PANCP | Hereditary Pancreatic Cancer Panel, Varies

Detect single nucleotide and copy number variants in 12 genes associated with pancreatic cancer. Identify patients at risk for hereditary pancreatic cancer syndromes.

• ENDCP | Hereditary Endocrine Cancer Panel, Varies

Detection of single nucleotide and copy number variants in 24 genes associated with hereditary endocrine cancer syndromes. Identification of patients at risk for developing hereditary endocrine cancer syndromes.

• HPGLP | Hereditary Paraganglioma/Pheochromocytoma Panel, Varies

Detection of single nucleotide and copy number variants in 11 genes associated with hereditary paraganglioma and/or pheochromocytoma. Identification of patients at risk for hereditary paraglioma and pheochromocytoma.

• THYRP | Hereditary Thyroid Cancer Panel, Variable

Detection of single nucleotide and copy number variants in 7 genes associated with hereditary thyroid cancer syndromes: APC (including promoters 1A and 1B), DICER1, PRKAR1A, PTEN (including promoter), RET, TP53, and WRN. Identification of patients at risk for hereditary thyroid cancer syndromes.

• BHDZ | Birt-Hoag-Dube syndrome, FLCN, full gene analysis, varies

Identification of gene variants associated with increased risk of Birt-Hoag-Dube syndrome for predictive screening of at-risk family members.

• BAP1Z | BAP1 tumor predisposition syndrome, BAP1 full gene analysis, varies

Identification of gene variants associated with increased risk of BAP1 tumor predisposition syndrome for predictive screening of at-risk family members.

• CDHZ | Hereditary diffuse gastric cancer syndrome, CDH1, full gene analysis, varies

Screening of patients with a personal or family history suggestive of hereditary diffuse gastric cancer syndrome.

• LRCCZ | Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, FH, Complete Genetic Analysis, Varies

Identify patients with hereditary leiomyomatosis and renal cell carcinoma syndrome.

• NF1Z | Neurofibromatosis Type 1, NF1, Complete Genetic Analysis, Varies

Identify patients with neurofibromatosis type 1.

• PTNZ | PTEN Hamartoma Tumor Syndrome, Complete Genetic Analysis of PTEN, Varies

Identify patients with PTEN Hamartoma Tumor Syndrome.

• RETZZ | Multiple Endocrine Neoplasia Syndrome Type 2, RET, Complete Genetic Analysis, Varies

Identify patients with multiple endocrine neoplasia type 2.

• STK1Z | Peutz-Jeghers Syndrome, STK11, Complete Genetic Analysis, Varies

Identify patients with Peutz-Jeghers Syndrome.

• VHLZZ | Von Hippel-Lindau Syndrome, VHL, full gene analysis, varies

Identification of patients with von Hippel-Lindau syndrome.

One of the most common oncopathologies, characterized by malignant transformation of cells of the bronchial or alveolar mucosa. Patients with advanced lung cancer require genetic testing to assess the possibility of choosing targeted therapy drugs. Our targeted lung cancer panel evaluates mutations in 12 genes and rearrangements in 7 genes, including EGFR, ROS1, BRAF and ALK. This genetic information can also be useful for prognosis.

Tests and their advantages:

• MCLNG | MayoComplete Lung Cancer Gene Panel with Rearrangements, Tumor

Determines microsatellite instability status and somatic mutation assessment in ALK, BRAF, EGFR, ERBB2, HRAS, KRAS, MDM2, MET, NRAS, RET, ROS1, and STK11, as well as activating exon 14 skipping mutations in MET.

Less tissue is required for hard-to-obtain samples. 

Identifies candidates for targeted therapy.

• MCLNM | MayoComplete Lung Cancer Mutations, Next-Generation Sequencing, Tumor

Determines microsatellite instability status and somatic mutation assessment in ALK, BRAF, EGFR, ERBB2, HRAS, KRAS, MDM2, MET, NRAS, RET, ROS1, and STK11.

• MCLNR | MayoComplete Lung Rearrangements, Rapid Test, Tumor

Detection of specific gene fusions (rearrangements) involving the ALK, ROS1, and RET genes, MET exon 14 skipping, and gene expression imbalances in ALK, ROS1, RET, NTRK1, NTRK2, and NTRK3.

• T790M | Cell-free DNA EGFR T790M Mutation Test, Blood 

An alternative to invasive tissue biopsy.

Identification of patients with non-small cell lung cancer who have the T790M mutation and who may benefit from specific therapy targeting the epidermal growth factor receptor.

Our laboratory offers 4 PD-L1 panels to assess patient response to immunotherapy treatment for ocular cancer. The specific PD-L1 clone, assay, and program eligibility requirements depend on tumor type, malignancy stage, prior treatment history, and the specific PD-L1 inhibitors being tested.

Tests:

• 22C3 | Programmed cell death ligand 1 (PD-L1) (22C3), semi-quantitative immunohistochemistry
• 288PD | Programmed cell death ligand 1 (PD-L1) (28-8), semi-quantitative immunohistochemistry
• SP263 | Programmed cell death ligand 1 (PD-L1) (SP263), semi-quantitative immunohistochemistry
• SP142 | Programmed cell death ligand 1 (PD-L1) (SP142), semi-quantitative immunohistochemistry

Brain cancer is a group of intracranial neoplasms that can affect both cerebral tissue and the glands of the brain, its membranes, blood vessels or nerves. Our approach to testing neuro-oncology diseases includes a combination of immunohistochemistry, molecular and cytogenetic analyses that allow us to clarify the cause, select targeted drugs, provide a clear understanding of the diagnosis, prognosis and treatment options.

Tests and their benefits:

• NONCP | Neuro-oncology expanded gene panel with rearrangements, tumor

Detection of mutations and rearrangements that can confirm the diagnosis or help determine the prognosis of patients with tumors of the central nervous system.

Detection of specific mutations and rearrangements in genes associated with response to or resistance to certain cancer treatments. 

Assess the microsatellite instability status, somatic mutations and rearrangements involving 160 genes associated with CNS tumors. This panel includes a DNA subpanel for detection of sequence alterations in 89 genes and an RNA subpanel for detection of rearrangements in 81 genes, including 104 known gene fusions and 29 known abnormal transcript variants.

• CMAPT | Chromosomal microarray analysis, formalin-fixed paraffin-embedded tumor

Tumor genomic characterization for copy number imbalance and loss of heterozygosity.

Aid in the diagnosis and classification of malignancies. Assess the prognosis of patients with malignancies.

Analysis of the 1p/19q deletion in glioma tumors.

Detection of abnormalities including gain of chromosome 7, loss of chromosome 10 and EGFR amplification.

• MGMT | MGMT Promoter Methylation, Tumor

Prognostication of newly diagnosed glioblastoma patients, IDH-wildtype.

Identification of newly diagnosed glioblastoma, IDH-wildtype patients who may respond to alkylating chemotherapy.

Possibility of treatment decisions in newly diagnosed IDH-wildtype glioblastoma in elderly patients.

Additional Tests:

• BRAFD | BRAF V600E/V600K Somatic Mutation Analysis, Tumor
• NTRK | NTRK Fusion Panel, Tumor

The main key to confirming a diagnosis in urology oncology, determining the type of tumor and its classification, is understanding whether the disease is hereditary. We are talking about kidney, bladder and prostate cancer. Also, the results of genetic tests allow you to choose an effective treatment.

Tests and their advantages:

• MCKCP | MayoComplete Kidney Cancer Panel, Next-Generation Sequencing, Tumor

Determines microsatellite instability (MSI) status and assesses somatic mutations in the ATRX, BAP1, BRAF, CDKN2A, FH, FLCN, KRAS, MET, MITF, MLH1, MSH2, MSH6, MTOR, NF2, PBRM1, PMS2, PTEN, RB1, SDHA, SDHB, SDHC, SDHD, SETD2, SMARCB1, ELOC (TCEB1), TERT, TP53, TSC1, TSC2, and VHL genes associated with renal cell carcinoma.

• MCBPP | MayoComplete Bladder and Prostate Cancer Panel, Next-Generation Sequencing, Tumor

Determines somatic mutations and MSI in 39 genes associated with bladder or prostate cancer.

• MCFRC | Complete Renal Cell Carcinoma with Fibromyomatous Stromal Panel, Next-Generation Sequencing, Tumor 

Provides diagnostic information based on the assessment of 4 genes.

Additional tests:

• CMAPT | Chromosomal Microarray Analysis, Formalin-Fixed Paraffin-Embedded Tumor • IMTF | Inflammatory Myofibroblastic Tumors, 2p23 (ALK) Rearrangement, FISH, Tissue
• SARCP | Sarcoma Targeted Fusion/Rearrangement Gene Panel, Next-Generation Sequencing, Tumor
• SDHMP | SDH Gene Mutation Analysis, Next-Generation Sequencing, Tumor • TERTD | TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor
• TFE3F | Alveolar Soft Part Sarcoma/Renal Cell Carcinoma, Xp11.23 (TFE3), FISH, Tissue
• TFEBF | Renal Cell Carcinoma, 6p21.1 Rearrangement (TFEB), FISH, Tissue
• TFH | FH Mutation Analysis, Next-Generation Sequencing, Tumor 

Hereditary Urologic Cancers:

• PRS8P | Hereditary Prostate Cancer Panel, Varies
• RENCP | Hereditary Kidney Cancer Panel, Varies
• WILMP | Hereditary Wilms Tumor Panel, Varies

For families facing childhood cancer, it is important that modern diagnostics are accompanied by personalized and reliable recommendations on how best to treat their child. Our pediatric oncology panel was created by a large team of geneticists, pediatric oncologists, and laboratory scientists with the pediatric population in mind.

Hereditary Cancer Tests

The panels used in our lab evaluate specific genes that have already been identified in a parent with a hereditary cancer syndrome.

• NF1Z | Neurofibromatosis Type 1, NF1, Complete Genetic Analysis, Varies

Testing children with a personal or family history suggestive of neurofibromatosis type 1 (NF1). Targeted cancer surveillance based on associated risks. Identification of genetic variants associated with increased risk of NF1, allowing testing of at-risk family members.

• PTNZ | PTEN Hamartoma Tumor Syndrome, Complete PTEN Gene Analysis, Varies

Testing children with a personal or family history suggestive of PTEN Hamartoma Tumor Syndrome (PHTS). Targeted cancer surveillance based on associated risks. Identification of genetic variants associated with increased risk of PHTS, allowing screening of at-risk family members.

• RETZZ | Multiple Endocrine Neoplasia Syndrome Type 2, RET, Whole Gene Analysis, Varies

Testing of children with a personal or family history suggestive of multiple endocrine neoplasia type 2 or Hirschsprung disease. Identification of gene variants associated with MEN2 or HSCR, allowing screening of at-risk family members.

• VHLZZ | Von Hippel-Lindau Syndrome, VHL, Whole Gene Analysis, Varies

Testing of children with a personal or family history suggestive of von Hippel-Lindau syndrome. Targeted cancer surveillance based on associated risks. Identification of genetic variants associated with increased risk of von Hippel-Lindau syndrome, allowing testing of at-risk family members.

Pediatric Neuro-Oncology

Children’s central nervous system tumors differ from adults by a higher frequency of gene fusions. It is also important to determine the molecular characteristics of the tumor to understand the outcome. Our genetic panel identifies only important clinical biomarkers that help specialists understand the diagnosis, select effective treatment methods, and target drugs.

• NONCP | Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor

Evaluation of abnormalities in 160 genes associated with brain tumors in children, including mutations in 89 genes and rearrangements in 81 genes.

• CMAPT | Chromosomal Microarray Analysis, Formalin-Fixed Paraffin-Embedded Tumor

Genomic characterization of tumors for copy number imbalance and loss of heterozygosity.

Assistance in the diagnosis and classification of malignant neoplasms. Evaluation of the prognosis of patients with malignant tumors. 

Analysis of the 1p/19q deletion in glioma tumors.

Detection of abnormalities including gain of chromosome 7, loss of chromosome 10, and amplification of EGFR.

Soft tissue cancer (sarcoma) in children

Our panel evaluates fusions described in 39 subtypes of soft tissue, bone, and other mesenchymal tumors. Because fusion events can occur between known or novel gene partners, the panel is designed to provide the most comprehensive analysis, including 124 fusion gene pairs, 274 fusion variants, and identification of a novel gene partner. Includes fusions common in childhood rhabdomyosarcoma, Ewing sarcoma, and related tumors.

• SARCP | Sarcoma Targeted Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor