- 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
- APC Sequencing and Deletion/Duplication
- ASCVD Risk Panel with Score
- Autoimmune Epilepsy Evaluation
- Autoimmune Diseases, Tests for
- Bordetella pertussis toxin (PT) antibody
- 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
- BRCA Ashkenazi Jewish Screen
- BRCA Ashkenazi Jewish Screen with Reflex to BRCA Panel (BRCA1, BRCA2)
- BRCA Panel (BRCA1, BRCA2)
- BRCA Panel Plus
- BRCA1 and BRCA2 Deletion/Duplication
- BRCAvantage®, Rearrangements
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- CDH1 Sequencing and Deletion/Duplication
- CHEK2 Sequencing and Deletion/Duplication
- Clostridium difficile Diagnostic Testing
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- Cardio IQ Lipoprotein Fractionation, Ion Mobility
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- 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
- Chromosomal Microarray, Prenatal, 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
- Comprehensive Hereditary Cancer Panel
- Culture, Fungus
- Culture, Urine, Routine
- Cystic Fibrosis Screen
- Cytomegalovirus (CMV) and Epstein Barr Virus (EBV) PCR
- Cytomegalovirus (CMV) IgG avidity
- D-Dimer, Quantitative
- Dementia, Secondary Causes
- Dengue Virus Testing
- Diagnosis of Intestinal Parasites
- Donor Testing
- Drug Monitoring, Antidepressants, With Confirmation, Urine and Serum
- Drug Testing, General Toxicology (Blood, Urine, or Serum)
- Drug Toxicology Alcohol Metabolite, with Confirmation, Oral Fluid
- Drug Toxicology Monitoring, Oral Fluid Testing
- FLT3 Mutation Analysis
- Factor V (Leiden) Mutation Analysis
- Factor VIII Activity, Clotting
- 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
- Follicular Lymphoma, EZH2 Mutation, COBAS
- 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 Viral RNA, Genotype, LiPA
- Hepatitis C Virus Antibody and RNA Testing
- Hereditary Breast Cancer Panel
- Hereditary Cancer Panels: MYvantageTM Hereditary Comprehensive Cancer Panel and GIvantageTM Hereditary Colorectal Cancer Panel
- Hereditary Cancer Single Site(s)
- Hereditary Colorectal Cancer Panel
- Hereditary Endocrine 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 Pre-exposure Prophylaxis (PrEP) Testing
- 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
- Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis (IDH1 and IDH2 Mutation)
- No FAQs found
- LDL Cholesterol Calculations
- LeukoVantage® Myeloid Neoplasm Mutation Panels
- Li-Fraumeni Syndrome, TP53 Sequencing and Deletion/Duplication
- Lupus Anticoagulant (LA) Evaluation with Reflex
- Lyme Disease Testing
- Lynch Syndrome Panel
- Lynch Syndrome, MLH1 Sequencing and Deletion/Duplication
- Lynch syndrome, MSH2 Sequencing and Deletion/Duplication (Including EPCAM)
- Lynch Syndrome, MSH6 Sequencing and Deletion/Duplication
- Lynch Syndrome, PMS2 Sequencing and Deletion/Duplication
- MEN1 Sequencing and Deletion/Duplication
- MUTYH Sequencing and Deletion/Duplication
- 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)
- Myeloproliferative Neoplasm Diagnosis: Molecular Evaluation
- NF1 Sequencing and Deletion/Duplication
- NAFLD Fibrosis Score
- Nevoid Basal Cell Carcinoma (NBCCS) (Gorlin) Syndrome Panel (PTCH1, SUFU)
- No FAQs found
- PALB2 Sequencing and Deletion/Duplication
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- Pain Management and CYP2D6/CYP2C19
- Pain Management Antipsychotics, With Confirmation, Serum and Urine
- Pain Management, Naltrexone, Quantitative, Urine
- Partial Thromboplastin Time, Activated (aPTT)
- Penta Screen
- Pharmacogenomics Panel
- PIK3CA Mutation Analysis
- Platelet Antibody Screen (Indirect)
- PNH with FLAER (High Sensitivity)
- Porphyria Testing
- Prothrombin Time with INR
- PTH, Intact and Calcium
- STK11 Sequencing and Deletion/Duplication
- Streptococcus pneumoniae (Pneumococcal) Antibody Tests
- Saccharomyces cerevisiae Antibodies (ASCA) (IgG, IgA)
- SARS-CoV-2 Antibody Testing
- Sequential Integrated Screen, Part 1
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- Serum Pregnancy Tests
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- 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
- Tuberous Sclerosis Complex Panel (TSC1, TSC2)
- No FAQs found
- VHL Sequencing and Deletion/Duplication
- Varicella Zoster Virus Antibody (IgG)
- Vitamin D Testing
- von Willebrand Comprehensive Panel
- 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 and fetal DNA 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?
The QNatal Advanced test 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, QNatal Advanced can detect microdeletions that are too small to be detected by standard cytogenetic analysis. 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 QNatal Advanced test help determine the fetal sex?
Yes, the QNatal Advanced test can help determine fetal sex based on the presence or absence of cfDNA from the Y chromosome. However, if the clinician and patient do not wish to know the fetal sex, the healthcare provider can opt out of having it reported.
Question 4. Are positive results from the QNatal Advanced test diagnostic?
No. Like all noninvasive cfDNA prenatal screening tests, the QNatal Advanced test does not provide a diagnostic result. If the QNatal Advanced test yields a positive result for fetal aneuploidy, a follow-up diagnostic procedure such as chorionic villus sampling (CVS) or amniocentesis should be considered for definitive confirmation.
Question 5. Which disorders are not detected by the QNatal Advanced test?
The QNatal Advanced test does not detect copynumber abnormalities of chromosomes other than 21, 18, 13, X, or Y, or abnormalities involving only a portion of a chromosome outside the microdeletion regions of interest. Additionally, like other noninvasive cfDNA prenatal screening tests, the QNatal Advanced test cannot identify nonsyndromic congenital anomalies (ie, birth defects). For example, it cannot detect a neural tube defect.
Question 6. When should the QNatal Advanced test be considered for a patient?
This test can be used for all pregnant women. The American College of Obstetricians and Gynecologists (ACOG) and the Society of Maternal-Fetal Medicine (SMFM) recommend that all women should be offered the option of aneuploidy screening or diagnostic testing for fetal genetic disorders, regardless of maternal age.1 The American College of Medical Genetics and Genomics (ACMG) states that there is strong evidence that noninvasive prenatal screening can replace conventional screening for trisomies 13, 18, and 21, regardless of maternal age.2
A published clinical study3 on the performance of the QNatal Advanced test in a population of pregnant women that included both those at average and those at high risk demonstrated excellent analytical sensitivity and specificity for trisomy 21, 18, and 31. The positive predictive value (PPV) was 98.1% for trisomy 21, 88.2% for trisomy 18, 59.3% for trisomy 13, 69.0% for sex-chromosome aneuploidies, and 75.0% for microdeletions. Overall, the PPV for fetal aneuploidies was 87.2%; sensitivity was 97.9% and specificity was 99.9%.
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 reliable are noninvasive cfDNA prenatal screening tests?
Noninvasive cfDNA-based prenatal screening tests have been shown to be very reliable in validation studies.4-6
False-positive and false-negative results 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 10. What is the turnaround time for the QNatal Advanced test?
Results are typically reported within 5 to 7 days after specimen collection. Results are sent to the ordering healthcare provider’s office or to the electronic medical record (EMR).
Question 11. What is included in the QNatal Advanced test report?
The report includes a “negative” or “positive” result for trisomy 21, 18, and 13. Sex-chromosome abnormalities and microdeletion syndromes will be reported as “increased risk” (unless microdeletion testing has been opted out). Fetal sex is reported as well, if not opted out.
Question 12. When might I not receive a result?
Some specimens do not contain enough fetal cfDNA (fetal fraction). If this happens, test results cannot be obtained, interpreted, or reported. Low fetal fraction can be due to several factors, including, but not limited to, maternal obesity. 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 13. 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.7
Implications of a positive or increased risk result should be discussed with the patient. Diagnostic confirmation using amniocentesis or CVS should be offered.7
- Committee on Practice Bulletins—Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine (2016). Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):e123-e137. doi: 10.1097/AOG.0000000000001406
- Gregg AR, Skotko BG, Beckendorf, J, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18:1056-1065. doi: 10.1038/gim.2016.97
- Guy C, Haji-Sheikhi F, Rowland CM, et al. Prenatal cell-free DNA screening for fetal aneuploidy in pregnant women at average or high risk: results from a large US clinical laboratory. Mol Genet Genomic Med. 2019;7:e545. doi: 10.1002/mgg3.545. Epub 2019 Jan 31.
- Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126:e31-e37.
- Quest Diagnostics. Data on file.
- Anderson B, Zhang K, Nguyen Q, et al. An automated, non-invasive prenatal screening assay (NIPS) for trisomy 21, 18, 13 in singleton and twin gestations. Int J Gynaecol Obstet. 2015;131(Suppl 5):E264.
- Committee opinion no. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126:e31-e37.