Clinical Education Center
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- ABL Kinase Domain Mutation in CML, Cell-based
- ABO Group and Rh Type
- Acid-Fast Bacillus (AFB) Identification, Sequencing and Stain, Paraffin Block
- ADAMTS13 Activity with Reflex to ADAMTS13 Inhibitor
- Alcohol Metabolites, Quantitative, Urine
- Alpha-Globin Common Mutation Analysis
- Alpha-Globin Gene Deletion or Duplication
- Alpha-Globin Gene Sequencing
- Anti-Müllerian Hormone AssessR™
- Anti-PF4 and Serotonin Release Assay (SRA) for Diagnosing Heparin-induced Thrombocytopenia/Thrombosis (HIT/HITT)
- Antiphospholipid Antibodies
- ASCVD Risk Panel with Score
- Autoimmune Epilepsy Evaluation
- Autoimmune Diseases, Tests for
- B-cell and T-cell Clonality Assays by PCR
- B-Type Natriuretic Peptide (BNP)
- BCR-ABL1 Gene Rearrangement, Quantitative PCR
- Beta-Globin Complete
- BRCAvantage®, Ashkenazi Jewish Screen
- BRCAvantage®, Rearrangements
- BRCAvantage™, Comprehensive
- BRCAvantage™, Single Site
- CDH1 Sequencing and Deletion/Duplication
- Clostridium difficile Diagnostic Testing
- C1 Inhibitor, Protein and Functional Tests
- Calreticulin (CALR) Mutation Analysis
- Carbapenem Resistant Enterobacteriaceae Culture Screen
- Cardio IQ Lipoprotein Fractionation, Ion Mobility
- Cervical Cancer, TERC, FISH
- CFvantage® Cystic Fibrosis Expanded Screen
- Chlamydia trachomatis, TMA
- Chlamydia trachomatis/Neisseria gonorrhoeae RNA, TMA
- Chromosomal Microarray, POC, ClariSure®, Oligo-SNP
- Chromosomal Microarray, Postnatal, ClariSure® Oligo-SNP
- Chromosome Analysis and AFP with Reflex to AChE, Fetal Hgb, Amniotic Fluid
- Chromosome Analysis, Amniotic Fluid
- Chromosome Analysis, Blood
- Chromosome Analysis, Blood with Reflex to Postnatal, ClariSure® Oligo-SNP Array
- Chromosome Analysis, Chorionic Villus Sample
- Chromosome Analysis, High Resolution
- Chromosome Analysis, High Resolution with Reflex to Postnatal, ClariSure® Oligo-SNP Array
- Chromosome Analysis, Mosaicism
- Chromosome Analysis, Neonatal Blood
- Chromosome Analysis, Sister Chromatid Exchange
- Chromosome Analysis, Tissue
- Chromosome DEB Assay for Fanconi anemia
- Chronic Lymphocytic Leukemia (CLL) - Diagnostic and Prognostic Testing
- Culture, Fungus
- Culture, Urine, Routine
- Cystic Fibrosis Screen
- Cytomegalovirus (CMV) and Epstein Barr Virus (EBV) PCR
- D-Dimer, Quantitative
- Dementia, Secondary Causes
- Dengue Virus Testing
- Diabetes Risk Panel with Score and Cardio IQ® Diabetes Risk Panel with Score
- Drug Testing, General Toxicology (Blood, Urine, or Serum)
- Drug Toxicology Alcohol Metab, QN, Oral Fluid
- Drug Toxicology Monitoring, Oral Fluid Testing
- Factor V (Leiden) Mutation Analysis
- Familial Mediterranean Fever Mutation Analysis
- First Trimester Screen, hCG
- First Trimester Screen, Hyperglycosylated hCG (h-hCG)
- FISH, Angelman
- FISH, MET Amplification
- FISH, Myeloma, 17p-, rea 14q32 with Reflexes
- FISH, Prader-Willi
- FISH, Prenatal Screen
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- HCV Genotyping
- Helicobacter pylori (H pylori) Antibody Discontinuation
- Heparin, Anti-Xa
- Hepatitis B Surface Antibody, Quantitative
- Hepatitis C Antibody with Reflex to HCV RNA, PCR with Reflex to Genotype
- Hepatitis C Viral RNA Genotype 1 NS5A Drug-resistance
- Hepatitis C Viral RNA Genotype 3 NS5A Drug Resistance
- Hepatitis C Viral RNA NS3 Drug Resistance
- Hepatitis C, RNA, Quantitative, PCR
- Hereditary Cancer Panels: MYvantageTM Hereditary Comprehensive Cancer Panel and GIvantageTM Hereditary Colorectal Cancer Panel
- Hereditary Hemochromatosis DNA Mutation Analysis
- Herpes Simplex Virus (HSV) Type-Specific IgG Antibodies
- Herpes Simplex Virus Type 2 (HSV-2) IgG Inhibition, ELISA
- HIV-1 Coreceptor Tropism, Proviral DNA
- HIV-1 Coreceptor Tropism, Ultradeep Sequencing
- HIV-1 Integrase Genotype
- HIV-1/2 Antigen and Antibodies, Fourth Generation, with Reflexes
- HPV mRNA E6/E7
- Influenza A and B Antigen, Immunoassay
- Influenza Type A and B Antibodies
- Insulin, Intact, LC/MS/MS
- Integrated Screen, Part 1
- Integrated Screen, Part 2
- Intrinsic Factor Blocking Antibody
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- Maternal Serum AFP
- Melanoma, BRAF V600E and V600K Mutation Analysis, THxID®
- Metanephrines, Fractionated, Free, LC/MS/MS, Plasma
- Methylenetetrahydrofolate Reductase (MTHFR), DNA Analysis
- Microalbumin (Urinary Albumin Excretion)
- Pain Management and CYP2D6/CYP2C19
- Pain Management, Naltrexone, Quantitative, Urine
- Partial Thromboplastin Time, Activated (aPTT)
- Penta Screen
- PIK3CA Mutation Analysis
- PNH with FLAER (High Sensitivity)
- Prothrombin Time with INR
- PTH, Intact and Calcium
- Streptococcus pneumoniae (Pneumococcal) Antibody Tests
- Saccharomyces cerevisiae Antibodies (ASCA) (IgG, IgA)
- Sequential Integrated Screen, Part 1
- Sequential Integrated Screen, Part 2
- Serum Integrated Screen, Part 1
- Serum Integrated Screen, Part 2
- Serum Pregnancy Tests
- Sickle Cell Screen
- Stepwise, Part 1
- Stepwise, Part 2
- SureSwab® Trichomonas vaginalis RNA, Qualitative TMA
- SureSwab®, Candidiasis, PCR
- TP53 Sequencing and Deletion/Duplication
- T4, Free
- Tamoxifen and Metabolites, LC-MS/MS
- Testosterone Testing
- Total Testosterone, LC/MS/MS
- Triple Screen
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Hereditary Cancer Panels: MYvantageTM Hereditary Comprehensive Cancer Panel and GIvantageTM Hereditary Colorectal Cancer PanelTest code(s) 93768, 93791
Question 1. What are the benefits of multi-gene panels?
Multi-gene panels simultaneously analyze a group of hereditary cancer-predisposition genes. They are most useful for patients with a personal or family history of cancer that does not clearly point to a specific cancer syndrome. Such panels can also identify patients with hereditary cancer predisposition when the clinical suspicion remains high despite a negative result on a single-gene/syndrome genetic test. Use of a multi-gene panel can be an efficient approach to genetic testing.
Question 2. What is the cancer risk associated with a positive result (pathogenic or likely pathogenic mutation detected)?
The risk of cancer depends on which pathogenic/likely pathogenic variant is detected in a given gene. Each gene is placed into a risk category based on 2 criteria: 1) the highest relative-risk for cancer conferred by the variant(s) in that gene, and 2) whether the variant(s) in the gene is a cause of a recognized genetic syndrome. Categories are defined as follows:
Question 3. What is included in the 2 panels?
93768 MYvantageTM Hereditary Comprehensive Cancer Panel
This panel analyzes 34 genes. Point mutations, deletions, and duplications are detected in APC,ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF and p16), CHEK2, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RET, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, and VHL. Deletion testing is performed for 3ʹ-EPCAM. This includes genes in the high-risk, moderate-risk, and emerging-risk categories.
93791 GIvantageTM Hereditary Colorectal Cancer Panel
This panel analyzes 13 genes. Point mutations, deletions, and duplications are detected in APC, BMPR1A, CDH1, LH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11 and TP53. Deletion testing is performed for 3ʹ-EPCAM. This includes genes in the high-risk category.
Question 4. Who may be appropriate for these tests?
The following individuals may be appropriate for these tests:
- Individuals with a personal history of cancer who have tested negative for a single gene or syndrome, but whose personal or family history remains strongly suggestive of an inherited susceptibility
- Individuals with several different types of cancer in the family history that do not seem to fit a particular hereditary cancer syndrome
Informed consent following genetic counseling is strongly recommended.
Question 5. What guidance can you give for choosing between the 2 panels?
There is a fair amount of overlap in the genes included in these panels. The larger MYvantage panel includes all of the genes found in the GIvantage panel. The following information may help you select between the two:
- The MYvantage panel includes 34 genes associated with a broad spectrum of hereditary cancers. This can include, but is not limited to, cancers of the breast, colon, endometrium, ovary, pancreas, prostate, rectum, neuroendocrine system, and other tissues. Most genes have National Comprehensive Cancer Network (NCCN) management recommendations for one or more cancer site.
- The GIvantage panel includes 13 genes predominantly associated with gastrointestinal cancers. This can include, but is not limited to, cancers of the colon, pancreas, rectum, stomach, endometrium, and other tissues. All genes have NCCN-management recommendations for one or more cancer site.
Question 6. The gene mutation in my patient’s family is known. Is there a better test for my patient?
Yes. Please call Quest Genomics Client Services at 866.GENE.INFO to discuss this case with a genetic counselor and get help with selecting the most appropriate test.
Question 7. Whom can I ask for help if I don’t know which test to order?
You can ask one of our genetic counselors. Please call Quest Genomics Client Services at 866.GENE.INFO to talk with a genetic counselor.
Question 8. When is the right time to test my patient?
The right time is different for every patient. A patient’s current medical status, personal experience with cancer, and general readiness for genetic information all influence the decision to be tested. Having an open dialogue with your patient about these topics can assist with shared decision-making.
Question 9. My patient has a positive result. What does this mean?
Patients with a positive result (pathogenic or likely pathogenic mutation detected) have an increased risk for developing certain cancers relative to the general population. The National Comprehensive Cancer Network (NCCN) provides up-to-date surveillance and management recommendations that can often be used, depending on the gene in question (www.nccn.org). Consider referring the patient to an oncology center experienced in treating patients with a hereditary predisposition to cancer. Such a center can discuss available options with the patient. These options may include increased surveillance, chemoprevention, and prophylactic surgery. Genetic counseling for family members is advised.
Question 10. My patient has a negative result. What does this mean?
A negative result means that pathogenic or likely pathogenic mutations were not found in the genes included in the panel. Implications of this result depend on the situation:
- Patient previously diagnosed with cancer: Your patient’s risk of recurrence or a related new cancer is based on his/her personal and family histories of cancer. In some instances, it may be appropriate to test for other hereditary forms of cancer. Please call Quest Genomics Client Services at 866.GENE.INFO to discuss possible additional studies with a genetic counselor.
- Patient not previously diagnosed with cancer, but with a family history of cancer: Testing an affected family member is recommended for proper risk assessment. Your patient’s risk of cancer is based on his/her personal and family histories of cancer. In some instances, it may be appropriate to test for other hereditary forms of cancer. Please call Quest Genomics Client Services at 866.GENE.INFO to discuss possible additional studies with a genetic counselor.
Question 11. My patient has a variant of unknown clinical significance (VUS). What does this mean?
A VUS result means that the variant has not been previously described in the literature or the clinical significance is unclear based upon currently available evidence. Medical-management decisions should be based on personal and family history. Family studies may be indicated to better understand the clinical significance of this variant. If you have questions, please call Quest Genomics Client Services at 866.GENE.INFO to speak with a genetic counselor.
Question 12. Where can I find more information on the MYvantagepanel and the GIvantage panel?
For additional information regarding our hereditary cancer test offerings, please visit QuestVantage.com.
- National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: colorectal. V2.2016. Rockledge, PA: National Comprehensive Cancer Network, 2016. Available at www.NCCN.org.
- National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: breast and ovarian. V2.2017. Rockledge, PA: National Comprehensive Cancer Network, 2017. Available at www.NCCN.org.