Full non-invasive prenatal testing

Full non-invasive prenatal testing

  • $598.00
    Unit price per 

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A full non-invasive prenatal testing (NIPT or NIPS) DNA test measures the amount of DNA free-flowing in maternal blood to screen for chromosomal imbalances in the developing fetus.

In order to obtain the DNA testing kit under medical supervision (required), the purchased test includes a bill to be presented at your selected clinic. Test prices can vary between different medical clinics. PATHOGENIC RESULTS WILL REQUIRE A GENETIC COUNSELING SESSION PRIOR TO MEDICAL MANAGEMENT.

Clients will also be given a checklist of topics to facilitate informed consent. Test purchase should take place after consultation with a Merogenomics representative in order for the client to be best prepared for informed consent. Informed consent and education towards its understanding will be required by the clinic. IF YOU HAVE NOT CONSULTED MEROGENOMICS ABOUT YOUR DNA TEST PLEASE BOOK A FREE APPOINTMENT USING THE LINK BELOW PRIOR TO TEST PURCHASE!

All international or Canadian clients in a region without a supported medical clinic, please book a meeting with Merogenomics to discuss the use of your preferred local doctor.

Full non-invasive prenatal testing (NIPT, also known as NIPS for screening) is the process of quantitatively decoding the amount of placental DNA in the maternal blood in order to determine whether abnormalities in chromosomal structures exist. Full NIPS denotes the fact that all chromosomes are assessed. Circulating free placental DNA can be used as a biomarker of the fetus’s DNA to learn about the potential conditions affecting the fetus. Test prices can vary between different medical clinics. Volume discounts available.


  • The test uses full genome next-generation sequencing to screen for all fetal aneuploidies (abnormal chromosome count, most often trisomy), by sequencing and quantifying cell-free DNA fragments in maternal blood
  • This test is used for clinical purposes and should not be regarded as investigational or for research
  • As the test uses only a small sample of maternal blood, the procedure is termed non-invasive prenatal testing (NIPT) or screening (NIPS). NIPS has a higher level of sensitivity and specificity than traditional serum screening, with the highest detection rate and lowest false positive rate for Down syndrome (trisomy 21)
  • This test is for a woman with singleton or twin pregnancies that meet any of below criteria:
    • Advanced maternal age (over 35 years of age at delivery for single pregnancies and over 32 years of age for twin pregnancies)
    • Positive serum screen
    • Abnormal ultrasound
    • A medical history suggestive of an increased risk for chromosome aneuploidy
    • Low risk but maternal anxiety is present
  • This test is not for women who have undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplantation
  • This test is not to diagnose specific genetic alterations in the DNA sequence. Please refer to the “Trio exome sequencing” or “Trio full genome sequencing” options for a diagnostic test with the most comprehensive view of alterations in an individual’s DNA code
  • The test might not provide a diagnosis if either the causes of the condition are not genetic in nature, or the causative variant is not identified. Even with a successful DNA diagnosis, it is possible that the information might not help in predicting a prognosis or change medical management or the treatment of disease
  • The test can be paid for only via institutional billing with the clinic billing patients/clients directly

  • Merogenomics provides background education towards patient/client informed consent
  • The blood sample collection kit includes prepaid shipping. Only one tube of maternal blood (7mL) is required
  • Services are fully insured, and are HIPAA, CLIA and CAP compliant
  • The results are available in 3–5 business days after the sample is received
  • The test is highly sensitive and specific about fetal aneuploidies for all chromosomes, providing the most accurate and comprehensive NIPS results:
    • Aneuploidy of chromosomes 21, 18, and 13 (common aneuploidies)
    • Aneuploidy of all remaining autosomal chromosomes (not available in twin pregnancies)
    • Sex chromosome aneuploidies (monosomy X or Turner syndrome, XXX, XXY or Klinefelter syndrome, and XYY or Jacobs syndrome), are included if requested;
    • Fetal sex (XX or XY) is reported if no sex chromosome aneuploidy is detected (optional)
    • Select clinically significant microdeletions are included if requested:
      • 1p36 deletion
      • 4p- (Wolf-Hirschhorn syndrome)
      • 5p- (cri-du-chat syndrome)
      • 15q11.2 (Prader-Willi syndrome/ Angelman syndrome)
      • 22q11.2 deletion (DiGeorge)
  • This test is available as early as 10 weeks into the gestation period
  • The use of an algorithm provides unambiguous test results, and not a risk score as seen in other NIPS tests. The result of “Aneuploidy Detected” is considered positive while “No Aneuploidy Detected” is considered negative
  • The test is not dependent on maternal age, maternal weight, gestational age or ethnicity

  • NIPS does not pose any risk to pregnancy
  • NIPS provides the earliest screening opportunity for chromosomal abnormalities and is the only screening option remaining for women in their third trimester
  • There is a higher level of accuracy with NIPS over the traditional serum screening option
  • It reduces the likelihood of undergoing an unnecessary invasive diagnostic procedure which carries a small but real risk of pregnancy loss
  • The full NIPS informs about all chromosomal aneuploidies instead of just the common aneuploidies, all of which can be important towards pregnancy management
  • Different aneuploidies can inform about different potential outcomes
  • Full genome next-generation sequencing NIPS allows for the screening of singleton and twin pregnancies, and pregnancies conceived using an egg donor

  • NIPS based on a cell-free DNA analysis from maternal blood is a screening test, not a diagnostic test. No clinical decisions should be made based on NIPS results alone. For a definitive diagnosis to confirm any positive results, chorionic villus sampling or amniocentesis should be undertaken
  • Full NIPS screens for aneuploidies of all chromosomes which are rare conditions. While important when discovered, it also means that there is an increased rate of false positives than would be expected if only common aneuploidies were screened for. The increased likelihood of false positives has to be balanced with the desire to discover additional aneuploidies not covered by other tests
  • NIPS is unable to evaluate placental dysfunction, and cannot be used for the determination of risk for pre-term delivery, fetal growth restriction, preeclampsia, placental abruption, intrauterine fetal demise, and perinatal death
  • NIPS is unable to identify pregnancies at risk for open neural tube defects
  • The test results do not eliminate the possibility that the pregnancy may be associated with other chromosomal or subchromosomal abnormalities, genetic conditions, birth defects or complications that fall outside the scope of the test
  • A negative test result does not preclude the presence of chromosomal aneuploidy
  • In a twin pregnancy, detected aneuploidy will not allow one to determine the status of each individual fetus
  • The occurrence of sex chromosome aneuploidies cannot be evaluated in twin pregnancies
  • The test results might not reflect the chromosome status of the fetus, but rather the chromosomal changes of the placenta only (the confined placental mosaicism which may be associated with a higher chance for pregnancy complications), or of the mother (chromosomal mosaicism). This is one of the major sources of encountered false positives. In addition, the test could identify maternal chromosomal abnormalities or the presence of benign or malignant neoplasm
  • A history of hematological disease might exclude test availability in certain circumstances
  • The test has not been cleared or approved by the US Food and Drug Administration. The FDA does not require this test to go through a premarket FDA review

  • All tests offered through Merogenomics require a physician to sign the test requisition form for regulatory compliance reasons. Once the requisition form is signed by the doctor, the ordering doctor does not have to participate in the process until the receipt of the test results
  • Merogenomics can provide detailed background information to the ordering physician on the test process. Merogenomics also provides additional education towards patient/client informed consent
  • The test is for a pregnant woman with singleton or twin pregnancies of either advanced maternal age (over 35 years of age at delivery for single pregnancies and over 32 years of age for twin pregnancies), a history suggestive of an increased risk for chromosome aneuploidy, or test results warranting further screening (a positive serum screen and/or abnormal ultrasound). Full NIPS is an especially important option in the presence of an abnormal ultrasound result
  • This test is not for women who have undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances
  • Morbidly obese women run an increased risk of test failure due to an insufficient amount of cell-free fetal DNA
  • It is recommended by sequencing guidelines that the ordering clinician provide efficient pre-test and post-test counseling to ensure that the patient/client makes informed decisions. If the healthcare provider is uncomfortable with providing counseling, especially post-test, referral to a certified genetics professional is warranted
  • No clinical decisions should be made based on NIPS results alone. All positive NIPS results have to be confirmed with either chorionic villus sampling  or amniocentesis prior to any irreversible decisions regarding the pregnancy
  • Women whose results are not reported from the NIPS screening (a “no call” test result), should receive further genetic counseling and be offered a comprehensive ultrasound evaluation and diagnostic testing due to an increased risk of aneuploidy
  • In rare instances, the test could identify maternal chromosomal abnormalities or the presence of benign or malignant neoplasm
  • Patient data is HIPAA compliant, securely stored on cloud for continuous re-analysis, and never sold or shared with third-party companies

  • The DNA sample is prepared using a VeriSeq NIPT PCR-free sample prep kit and is sequenced using pair-end sequencing
  • The test provides 5% sensitivity, 99.8% specificity and 92.8% positive predictive value (PPV) for trisomy 21. 97.2% sensitivity, 99.7% specificity and 74.3% PPV for trisomy 18. 98.0% sensitivity, 99.8% specificity and 50.0% PPV for trisomy 13. 95.0% sensitivity, 99.0% specificity for monosomy X. 98.7% specificity and 99.95% specificity for all autosomes. PPV of 90.0% for 22q11 deletion syndrome, and 10.5% to 66.7% PPV for the other microdeletion syndromes
  • It possesses the lowest test failure rate of 0.1% of available commercial NIPS tests
  • The proprietary algorithm normalizes the chromosome value for each chromosome of interest, reducing data variation caused by sequence content, or sample-to-sample and run-to-run variations and classifies aneuploidies across the entire genome
  • Results are reported as “Aneuploidy Detected” or “No Aneuploidy Detected” for each common aneuploidy chromosome and sex chromosomes, and collectively for the remainder of autosomal aneuploidies unless a specific chromosome positive result has to be reported. The results for a positive microdeletion syndrome are reported as “results consistent with a microdeletion in a certain genomic region”
  • The fetal fraction estimate is reported as per the proposed sequencing guidelines but is not used in isolation to exclude samples. For low fetal fraction samples, quality metrics are implemented to ensure valid sequencing coverage, otherwise the sample is considered failed

  • Access to a genetic counselor is available before and/or after the receipt of the test results for an additional cost. This is highly recommended especially after the results are received
  • Volume discounts are available. Contact Merogenomics for more details

Purchase of the test can be refunded within 30-days of issued invoice date minus $50 processing fee to cover the costs associated with testing kit (even if the kit was not used by the customer). A refund is not available once the sample has been obtained by the laboratory and DNA testing has commenced.

Dr. Denis Vincent Clinic

138-8627 91 St NW, Edmonton AB

Preventous Collaborative Health

1635 17 Ave SW, Calgary AB

Summerwood Medical Centre

162-4005 Clover Bar Rd, Sherwood Park AB

Please contact us if your clinic is interested in providing access to DNA testing.

Merogenomics is collaborating with a third party institution, Blue Finance, to provide access for eligible customers to convenient, monthly payment options. Contact Merogenomics for more information.

Below are examples of possible monthly payment options for specified duration terms.


Payment options for 12 month term

DNA test cost Monthly payment
$699 $65
$799 $85


Payment options for 24 month term

DNA test cost Monthly payment
$2,499 $127
$3,749 $190
$4,099 $208
$5,199 $264
$7,399 $376