Over 600,000 samples processed worldwide

Advanced Technology

SAFE AND SIMPLE: Requires only 10ml of maternal blood – paternal blood is not required for the iGene® test.

COMPREHENSIVE: Sequences data from the 23 pairs of chromosomes to accurately detect no just trisomies, but sex chromosome abnormalities and selected deletions.

REVOLUTIONARY: Inherent biases in sequenced chromosomal data lead to read count variability. One such bias is the Guanine-Cytosine content (GC) bias; the iGene® algorithm removes GC content bias, resulting in lower error rates

ACCURATE: A deeper analysis based on the whole genome sequencing approach gives you more than 99% accuracy, so you can be confident of results.1,9

TEST QUALITY: False positive and false negative rates of 0.05% and 0.004% and non-reportable rate of 0.1%.12

FAST: Quick turnaround time for results between 7 to 10 working days upon receipt of sample in the laboratory.

CLEAR-CUT REPORTS: Critical information is delivered as definitive results that don’t rely on numerical risk scores

How iGene® Compares

iGene® is based on whole genome sequencing coupled with BGl's proprietary bioinformatics algorithm. Millions of reads from sequencing data across the genome are analysed to enhance the precision and accuracy of the test results .

Unlike other tests that use restricted sequencing techniques, whole genome sequencing approach generates rich and comprehensive results with more than 99% accuracy for Trisomy 21, 18 and 13.1

Verinata Verifi

Ariosa Harmony

Natera Panorama


Whole Genome Sequencing
Whole Genome Sequencing Microarray Single Nucleotide Polymorphism-Sequencing
The sequencing method used
Comprehensive Coverage of all the Chromosomes
Comprehensive Coverage of all the Chromosomes
Limited Coverage of Chromosome
Limited Coverage of Chromosome


99.50% 100.00% 98.60%
The rate at which the test can correctly identify a chromosomal abnormality


97.20% 90.00% 100.00%
The rate at which the test can correctly identify a chromosomal abnormality


98.00% 100.00% 100.00%
The rate at which the test can correctly identify a chromosomal abnormality

Egg Donor/
Surrogate Pregnancy

The ability to use the test on expectant mothers who have used a donor egg, or on surrogate mothers

Twin samples accepted

The ability to use the test in twin pregnancies

Non-Reportable Rate

0.1% 3.0% 6.4%
The percentage of tests that did not yield enough fetal DNA quantitatively or qualitatively, to be viable for sequencing

False Positive Rate

2.1% 0.15% 9.09%
The rate at which a positive result is incorrectly identified, when there is no chromosomal abnormality is present

Positive Predictive Value

85.5% 80.9% 90.9%
The probability that a positive result is truly positive, or the proportion of patients with positive test results who are correctly identified.

Source: 11, 12, 14, 15

Whole Genome Sequencing

Other non-invasive prenatal tests only look at at small cross-section of the genetic information of the baby, which is the fastest way to look for changes that may cause disease. iGene® is based on whole genome sequencing approach, which reads millions of DNA sequences, allowing higher accuracy that other technologies cannot match. This allows for a complete picture, facilitating detection of not only the most common trisomies, but also sex chromosome abnormalities and deletions, which occur when there are deletions of part of a chromosome.

Low non-reportable rate of 0.1%12 Non-reportable rate of 6.4%11
Low technical failure rate of 0.1%1 Technical failure rate up to 5.4%13
Tests for donor pregnancies Unable to test

Source: 11, 12, 13

Usage Guidelines

iGene® can be performed starting as early as 10 weeks gestation. iGene® could be viewed as complementary to first trimester ultrasound evaluation and nuchal translucency assessment. Expectant mothers who could benefit from iGene® include women with anyone of the following conditions:

Advanced maternal age (over 35)
"High risk" in First Trimester Screen
Abnormal maternal serum screen
Personal or family history of fetal aneuploidy
Abnormal ultrasound findings suggestive of fetal trisomy

iGene® is a screening, not a diagnostic test. Patients should opt for it only as an informed choice after appropriate pre-test counselling. Those that return an abnormal result should be offered CVS or amniocentesis for confirmation of the diagnosis.

Source: 1, 9


Ordering iGene®

Download Forms

Download the iGene® Request & Informed Consent Form from the link below. Please complete and sign the form with your patient

Download Form :

Collect The Sample

Draw 10ml of patient blood (21G needle recommended) into a Streck Tube vacutainer, then place the Streck Tube inside the biohazard bag for courier to our laboratory.

Note: Do not chill the Streck Tube.

Turnaround time for sample processing is between 7 to 10 working days from receipt of sample in the laboratory.

Receive the Report

When you receive your patient’s result, they will be definitive and you can immediately tell your patient if they have a “Screen Negative” or “Screen Positive”.

If the result is “Screen Positive”, it is highly recommended that your patient gets further confirmation by amniocentesis. This is because while iGene® is highly accurate, the test is not a diagnostic one.”

Definitive Results

iGene® reports are analysed twice before release. The first is the technical evaluation including Quality Control and Quality Assurance. The second is the clinical evaluation. The results are dichotomous; no intermediate category is reported. The results are then issued as "screen negative" or "screen positive", unlike competing tests where

results are distinguished between being close to, or distant from the “cut-off”. This approach may sometimes render some results unclassifiable, such as those offered by competing tests, which have a range of between 4 and 5.4% of results which are unclassifiable 9.

Source: 9


  • What is iGene?

    iGene is a highly accurate non-invasive prenatal screening test for detecting Down Syndrome, Edwards Syndrome and Turner Syndrome. The test is based on Whole Genome Sequencing approach that analyses circulating cell free DNA extracted from a maternal blood sample. iGene is more than 99%1 accurate for Down Syndrome and carries a false positive rate of 0.05% and a false negative rate of 0.004%1.

    Source: 1. Zhang H, et al. 2015 Ultrasound Obstet. & Gynecol. 45:530-538.

  • How does it compare to other Down Syndrome screening tests?

    iGene has a detection rate (DR) of  more than 99% and a false-positive rate (FPR) of less than 1%1.


    Comparison of Screening Tests

    TABLE 1. Comparison of the DR, FPR, FNR of current fetal trisomy screening strategies

    Source: 1. Zhang H, et al. 2015 Ultrasound Obstet. & Gynecol. 45:530-538.


  • When is the earliest gestation that the iGene test can be done?

    iGene can be done as early as 10 weeks of gestation. Whereas fetal genetic material is known to circulate in maternal blood in earlier gestations, the proportions are lower the earlier the gestation. In order to keep the no call rate low (<3%), it is advisable to take the maternal blood sample at or after 10 weeks gestation.

  • Why is iGene a superior test?

    iGene has more than 99% sensitivity and specificity for Down Syndrome with false positive and false negative rates of less than 1%, demonstrating that the test will detect almost all cases of fetal trisomy 211.

    Furthermore, because the study was conducted on an actual screening population at large, instead of extrapolated from a highly selected sample set with matched controls, the high positive predictive value (PPV) of 99.3%2 and negative predictive value (NPV) of the test is more likely to be a true representation of the test performance.

    In addition, iGene can evaluate and report on sex chromosome aneuploidies and select deletion syndromes.

    Source: 1. Zhang H, et al. 2015 Ultrasound Obstet. & Gynecol. 45:530-538.  2. Dan, et al. 2012 Prenatal Diagnosis 32;1-8.

    Learn about what iGene tests here.


  • What is the turnaround time for the iGene results?

    The turnaround time of iGene is approximately 7 to 10 working days from receipt of sample in the laboratory.

  • How many the iGene tests have been performed to date, and what are the demographics?

    Over 600,000 iGene tests have been processed worldwide since 2011. The tests have been carried out mostly on women from the Asia-Pacific region.

  • If my patient tests positive for iGene, what happens next?

    Although all research to date suggests that NIPT is highly accurate, with a high detection rate for fetal trisomy 21, 18 and 13 and a false positive rate of 0.05%, this test is not diagnostic. A SCREEN POSITIVE result, even on a highly efficient screening test such as iGene, requires confirmation by amniocentesis and karyotyping.

  • If my patient tests negative for iGene, what can I tell my patient?

    A negative result suggests low risk for the tested aneuploidies and no further testing is required.

  • What are the chances that the test will yield an indeterminate result?

    There is a 3% chance of a repeat blood sampling. This will be determined as part of the Quality Control (QC) step at the start of the process. The repeat sampling could be due to a number of reasons, such as damage to the blood sample or insufficient fetal DNA.

    The turn-around time will be an additional 5 working days to account for the shipping of the second sample. The iGene cost is incurred only when the sample begins the MPS cycle.

  • How do I order iGene?

    1. Download iGene Request and Consent Form here.

    • For Australia
    • For Singapore

    2. Draw 10 ml of patient blood (21G needle is recommended) into a vacutainer – Streck Tube. Place the iGene Streck Tube inside the biohazard bag. DO NOT chill the Streck Tube.

    3. iGene Request and Consent Form needs to be completed and signed by the ordering clinician and patient.


1. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.

Dan S, Wang W, Ren J, Li Y et al., Prenatal Diagnosis, 2012 Nov 9:1-8. doi: 10.1002/pd.4002

2. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.

Bianchi et al., Obstet Gynecol 2012;119:890-901

3. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study.

Palomaki et al., Genetics in Medicine 2011:13(11);913-920

4. Non-invasive prenatal aneuploidy testing at chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.

Zimmermann et al., Prenatal Diagnosis 2012;32;1233-1241

5. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.

Nicolaides et al., American Journal of Obstetrics and Gynecology 2012;207;374.e1-6

6. BGI Clinical Data.

Retrieved from: http://www.niftytest.com/plus/list.php?tid=200

7. Non-invasive prenatal screening of fetal down syndrome by maternal plasma DNA sequencing in twin pregnancies.

Lau TK, et al., Journal of Maternal-Fetal and Neonatal Medicine, 2013 Mar;26(4):434

8. BGI Clinical Laboratories Data, 2013.

9. Noninvasive fetal trisomy (NIFTY) test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.

Jiang F, et al. BMC Medical Genomics, 2012 Dec;5:57. doi:10.1186/1755-8794-5-57

10. Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples.

McCullough, Ron M. et al. (2014) PLoS ONE.

11. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.

Dar, P et al. 2014. Am J Obstet Gynecol.

12. Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies.

Zhang H, et al. (2015) Ultrasound Obstet. & Gynecol. 10.1002/uog/14792.

13. Hayes, Inc. GTE Report Noninvasive prenatal testing (NIPT) for fetal aneuploidy.

Hayes, Inc. Lansdale, PA. 2013

14. Cell-free DNA Analysis for Noninvasive Examination of Trisomy

Norton et al. 2015. N Engl J Med 372, 1589-1597.

15. Noninvasive prenatal testing in the general obstetric population

Taneja PA. et al. (2016) Prenatal Diagnosis.

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