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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Chromosome Analysis, TissueTest code(s) 14593(X)
Question 1. What are the best specimens to submit from products of conception (POC)?
The entire POC or a portion of the POC containing placental membrane, villi, umbilical cord, and fetal parts is optimal. In cases of early gestation pregnancy loss, membranes and villi may be the only fetal tissue available. In later pregnancy loss, other fetal tissues including umbilical cord, skin, cartilage (rib), pericardium, internal membrane, and diaphragm should also be submitted if available. Placenta specimens should be collected from the fetal side of the placenta. Amniotic fluid, cord blood, and/or cardiac blood may also be submitted, using a different test code. To choose the appropriate test code, or to discuss a particular case with a genetic counselor, please call 866-GENE-INFO.
Question 2.What is the collection procedure for POC specimens?
POC specimens should be collected in as sterile a manner as possible and immediately placed in transport medium in a sterile urine cup or other sterile containerto reduce cell death and contamination. Quest Diagnostics provides "POC Transport Media" upon request (a balanced salt solution supplemented with antibiotics and an antimycotic). However, any sterile, balanced salt solution is acceptable (Ringer's solution, Hanks Balanced Salt Solution, etc.). Water is not an acceptable transport medium. If multiple tissue types are available from a POC, please put each tissue type in its own container. Each container should be clearly labeled with the specific tissue type and patient name. All tissue types can be submitted under the same requisition and test code unless multiple gestations. If multiple gestations, please submit POC from each gestation under separate requisitions.
Question 3. How should the POC specimens be stored and transported?
Store and transport POC specimens in a tightly closed container to prevent the specimen from drying out. Store and transport at refrigerated (2-8°C) temperature. Room temperature storage is not recommended, and specimens should never be frozen. Transport as soon as possible, preferably less than 48 hours after collection.
Question 4. Which POC specimens cannot be used for chromosome study?
Any compromised specimens that would fail to produce analyzable metaphase cells, eg, formalin-fixed specimens, frozen samples, necrotic tissue, or obviously contaminated specimens, cannot be used for chromosome study. Chromosome studies can only be performed on dividing cells cultured from fresh tissue specimens.
Question 5. What information should be sent along with the POC specimens?
Please send patient clinical and pregnancy history, any significant family history, and gestational age information.
Question 6. Multiple fetal anomalies were detected by ultrasound or autopsy, but chromosome analysis was normal. Are there further studies that can be done to test for a genetic disorder in the fetus?
Yes, there are other studies that may be appropriate. There are many causes of fetal anomalies, some of which are genetic. In the absence of clinical suspicion for a specific genetic disorder, a microarray analysis may be performed on the products of conception (POC) to detect subtle deletions and duplications (test code 90929, Chromosomal Microarray, POC, ClariSure® Oligo-SNP). If clinical suspicion exists for a specific disorder, there may be other genetic testing available. Please contact 866-GENE-INFO to discuss the case with a genetic counselor and for information on adding another test.
Question 7. My patient has a personal or family history of a chromosome abnormality. Chromosome analysis on products of conception tissue was reported as normal. Do these results guarantee that the fetus did not have the chromosome abnormality in the family?
No. Please call 866-GENE-INFO to discuss this case with a genetic counselor. Documentation of the specific genetic abnormality in the family will be necessary to determine the accuracy of the testing that was performed on the fetus.
Question 8. The tissue chromosome analysis was reported as a growth failure. Are there any other studies that can be attempted on the tissue to determine if the fetus has a chromosome abnormality?
When tissue fails to grow, a standard chromosome analysis is impossible to perform. There are two tests that may be considered to provide some information regarding the fetal chromosomes on tissue samples that fail to grow. FISH, Products of Conception Panel (test code 14820X) will provide information regarding the number of copies of chromosomes 13,16,18,21,22,X and Y. A Chromosomal Microarray, POC, ClariSure® Oligo-SNP (test code 90929) may be performed to detect subtle deletions and duplications of chromosome material. Please contact 866-GENE-INFO to discuss the case with a genetic counselor and for information on adding additional testing.
Question 9. Which chromosome abnormalities does the Chromosome Analysis, Tissue test rule out?
Trisomies such as Down syndrome, trisomy 18, and trisomy 13
Sex chromosome abnormalities such as Turner syndrome and Klinefelter syndrome
Most rearrangements, including Robertsonian translocations and inversions
Mosaicism above 14% (at a 95% confidence level)
Question 10. Which disorders cannot be detected by the Chromosome Analysis, Tissue test?
Most microdeletion syndromes, including DiGeorge, Prader-Willi, Angelman, Williams, and Smith-Magenis
Subtle rearrangements and small gains/losses
Mosaicism below 14%
Fragile X syndrome
Single gene disorders such as cystic fibrosis, Marfan syndrome, neurofibromatosis, etc
Question 11. The report indicates that maternal cell contamination (MCC) is a potential pitfall; is there a test that can be done to test for MCC?
Yes. Maternal Cell Contamination Study, STR Analysis (test code 10262) may be ordered on a maternal blood sample. Ideally, the maternal sample should be submitted with the tissue sample. If you are considering adding MCC studies to a completed case, please call 866-GENE-INFO to speak with a genetic counselor.