- No FAQs found
- 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
- Biotin: Interference with Laboratory Assays
- 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 Hypercholesterolemia (FH) Panel
- Familial Hypercholesterolemia (FH) Single Site
- 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
- No FAQs found
- HCV Genotyping
- Helicobacter pylori (H pylori) Antibody Discontinuation
- Heparin, Anti-Xa
- Hepatitis B Surface Antibody, Quantitative
- Hepatitis B Surface Antigen, Quantitative, Monitoring
- 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 Virus Antibody and RNA Testing
- 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 Resistance, Proviral DNA (RTI, PI, Integrase Inhibitors)
- HIV-1/2 Antigen and Antibodies, Fourth Generation, with Reflexes
- HPV mRNA E6/E7
- Infliximab and Adalimumab Drug and Anti-drug Antibody Testing
- 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
- No FAQs found
- No FAQs found
- 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 Antidepressants, With Confirmation, Urine
- Pain Management Antipsychotics, With Confirmation, Serum and Urine
- Pain Management, Naltrexone, Quantitative, Urine
- Partial Thromboplastin Time, Activated (aPTT)
- Penta Screen
- PIK3CA Mutation Analysis
- Platelet Antibody Screen (Indirect)
- 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
- No FAQs found
- No FAQs found
- No FAQs found
QNatal® AdvancedTest code(s) 92777
Question 1. How is the QNatal® Advanced test performed?
The QNatal Advanced test is performed on cell-free DNA (cfDNA) isolated from maternal blood. This cfDNA contains both maternal DNA as well as fetal DNA, which is derived from apoptotic placental cells (trophoblasts). Once isolated, the cfDNA is sequenced using massively parallel shotgun sequencing (MPSS); this is followed by quantitative bioinformatics analysis. In this way, the fetal copy number of chromosomes 21, 18, 13, X, Y and select microdeletion regions are calculated.
Question 2. What does the QNatal® Advanced test detect?
QNatal Advanced can detect the most common autosomal fetal abnormalities: trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). It can also detect abnormalities of the sex chromosomes. These include Turner syndrome (monosomy X) and Klinefelter syndrome (XXY) as well as XXX and XYY syndromes. In addition, microdeletions that are too small to be detected by standard cytogenetic analysis can be detected. These include microdeletions of chromosomes 1p (1p36 syndrome), 4p (Wolf-Hirschhorn syndrome), 5p (Cri-du-chat syndrome), 8q (Langer-Giedion syndrome), 11q (Jacobsen syndrome), 15q (Prader-Willi/Angelman syndromes), and 22q (DiGeorge syndrome).
Question 3. Can the fetal sex be determined?
Yes, fetal sex can be determined based on the presence or absence of Y chromosome cfDNA. However, if the clinician and patient do not wish to know the fetal sex, the healthcare provider can ‘opt out’ of having it reported.
Approved for use in the USA only, not for use in India or countries where it is illegal to do testing for gender.
Question 4. Are QNatal® Advanced positive results diagnostic?
Like all noninvasive prenatal screening (NIPS) tests, the QNatal Advanced test does not provide a diagnostic result. Should a positive result be reported, a follow-up diagnostic test such as CVS or amniocentesis should be considered for definitive confirmation.
Question 5. Which disorders are not detected by the QNatal® Advanced test?
Copy number abnormalities of chromosomes other than 21, 18, 13, X, or Y and abnormalities involving only a portion of a chromosome outside the microdeletion regions of interest are not detected. Additionally, the QNatal Advanced test, like other NIPS tests, cannot identify nonsyndromic congenital anomalies (i.e. birth defects). For example, a neural tube defect cannot be detected.
Question 6. When should the QNatal® Advanced test be considered for a patient?
Consider testing patients at high risk for aneuploidy due to:
1. Advanced maternal age (ie, 35 years of age or older at the time of delivery)
2. Positive maternal serum screen (MSS)
3. Abnormal ultrasound finding
4. Positive personal or family history
Question 7. When would the QNatal® Advanced test not be considered for a patient?
Testing should not be performed prior to 10 weeks gestational age.
Question 8. Can the QNatal® Advanced test be performed on specimens from a multiple gestation pregnancy or a pregnancy with a donor ovum?
Yes, the QNatal Advanced test can be performed on specimens from both of these types of pregnancy.
Question 9. How does the QNatal® Advanced test differ from CVS or amniocentesis?
The QNatal Advanced test is an NIPS test that can be performed as early as 10 weeks′ gestation and any time thereafter throughout pregnancy. It only requires two full tubes of blood (20 ml total) collected from a pregnant woman and therefore carries no risk for the fetus.
Question 10. How reliable are NIPS tests?
NIPS tests have been shown to be very reliable in validation studies.1-3
False positives and negatives do occur; causes include, but are not limited to, confined placental mosaicism, co-twin demise/vanishing twin, fetal mosaicism, maternal mosaicism, possible fibroids, and maternal malignancy.
Question 11. What is the turnaround time (TAT) for the QNatal® Advanced test?
Results are typically reported within 7 to 10 days from time of specimen collection. Results are sent to the ordering physician’s office or to the electronic medical record (EMR).
Question 12. What is included in the QNatal® Advanced test report?
The report includes a “negative” or “positive” result for trisomy 21, 18, and 13. When suspected, sex chromosome abnormalities and microdeletion syndromes will report as “increased risk” (unless microdeletion testing has been opted out). Fetal sex is reported as well, if not opted out. If the physician initially indicated that the fetal sex was not desired, he/she can request it later by contacting Quest Genomics Client Services at 866-GENE-INFO.
Question 13. When might I not receive a result?
Some specimens do not contain sufficient fetal cfDNA. Test results cannot be obtained, interpreted, or reported for these specimens. This can be due to several factors including, but not limited to, maternal obesity, inadequately filled tubes or only one tube. The test can be repeated using newly-collected maternal blood specimens. If no result is obtained on the second specimen, consideration of a diagnostic test may be appropriate.
Question 14. What is the follow up after a QNatal® Advanced test?
No specific follow up is needed when the test is negative. However, if ultrasound examination of the fetus reveals anomalies, then further fetal studies might be indicated.4
Implications of a positive or increased risk result should be discussed with the patient. Diagnostic confirmation using amniocentesis or chorionic villus sampling (CVS) should be offered.4
- Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13:913-920.
- Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14:296-305.
- Canick, JA, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diag. 2012;32:730-734.
- Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126(3):e31-e37. http://www.acog.org/-/media/Committee-Opinions/Committee-on-Genetics/co640.pdf?dmc=1&ts= 20151020T1255068154