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
- 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, QvantageTM, and GIvantageTM
- 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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CDH1 Sequencing and Deletion/DuplicationTest code(s) 92568
Question 1. What is the clinical application of this test?
This test is used to identify individuals with a high risk of developing hereditary diffuse gastric cancer (HDGC) syndrome. The test detects point mutations, deletions, and duplications in the CDH1 gene.
Question 2. Who may be appropriate for CDH1 mutation testing?
The following individuals may be appropriate for this test:
- Individuals with a personal history of diffuse gastric cancer or lobular breast cancer
- Individuals with a family history of diffuse gastric cancer or lobular breast cancer
Informed consent following genetic counseling is strongly recommended. The person in the family with the earliest diagnosis of stomach and/or breast cancer should be tested first whenever possible.
Question 3. Whom can I ask for help regarding a specific case?
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 4. What is the cancer risk associated with a positive result (pathogenic or likely pathogenic variant detected)?
Both women and men have a higher risk of stomach cancer, specifically diffuse gastric cancer, than the general population. The lifetime risk of diffuse gastric cancer is up to 83% for women and up to 67% for men.2,4 Men and women might also have an increased risk of colorectal cancer as compared to the general population. Women have a 39% to 52% lifetime risk of developing breast cancer (lobular carcinoma).3,4
Question 5. 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 6. My patient has a positive result. What does this mean?
Patients with a positive result (pathogenic or likely pathogenic variant detected) have an increased risk for developing certain cancers relative to that of the general population.
The National Comprehensive Cancer Network (NCCN) provides up-to-date surveillance and management recommendations (NCCN.org) for patients with a positive result. These include increased surveillance and prophylactic surgery.1 The NCCN further recommends referring patients to oncology centers experienced in treating patients with a hereditary predisposition to cancer. Counselors and doctors at these centers can discuss available options with patients. Genetic counseling for family members is advised.
Question 7. My patient has a negative result. What does this mean?
A negative result means that a pathogenic or likely pathogenic variant was not detected in the CDH1 gene. 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 8. 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 that the clinical significance is unclear based upon currently available evidence. Medical management decisions should be based on personal and family history. Family studies may help to learn more about 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.
- Fitzgerald RC, Hardwick R, Huntsmen D, et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for clinical research. J Med Genet. 2010;47:436-444. Erratum appears in J Med Genet. 2011;48:216.
- National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Gastric cancer. V2.2016. Rockledge, PA: National Comprehensive Cancer Network, 2016. Available online with free registration.
- National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: breast and ovarian. V1.2017. Rockledge, PA: National Comprehensive Cancer Network, 2016. Available online with free registration.
- Pharoah PD, Guilford P, Caldas C and the International Gastric Cancer Linkage Consortium. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001;121:1348-1353.