Promissium™ NIPT – Duzen® Health Group’s 45 years of international service quality meets the Illumina VeriSeq™ V2 technology.
Promissium™
Non-Invasive Prenatal Screening Test
Promissium™ NIPT, with the CE-IVD certified Illumina VeriSeq™ V2, is a non-invasive and highly predictive prenatal screening test that can screen all chromosomes.
Why Promissium™ NIPT
Non-invasive, only the blood of the expectant mother
High predictive power
Extensive screening not only for Trisomy 13, 18 and 21, but also for all chromosomes (if desired)
Can be applied from the 10th week of pregnancy
Free chromosome analysis when you get a high-risk result
Fast turnaround time
Post-test genetic counseling by our specialist physicians (if desired)
Duzen® Health Group’s 45 years of international service quality
How the NIPT test works?
NIPT is a new generation screening test that allows highly reliable screening of chromosomal anomaly risks of the baby by taking only the blood of the expectant mother.
Cell-free DNA (cfDNA) refers to non-encapsulated fragmented DNA about 50 to 200 bases long that enter the blood from different cells.
Cell-free fetal DNA circulates in the mother’s blood along with maternal cfDNA.
Information about the baby’s chromosomes is obtained by sequencing and analyzing these free-floating DNA fragments.
Cell-free fetal DNA circulates in the mother’s blood along with maternal cfDNA.
Information about the baby’s chromosomes is obtained by sequencing and analyzing these free-floating DNA fragments.
First, a small amount of blood is taken from the expectant mother into special Streck tubes.
Then cfDNA can be delivered to the laboratory without being damaged.
Then cfDNA can be delivered to the laboratory without being damaged.
The small amount of cfDNA present in the blood is isolated.
This cfDNA contains DNA fragments of both the mother and the baby.
This cfDNA contains DNA fragments of both the mother and the baby.
Sequences of all cfDNA fragments are obtained on the next generation sequencing (NGS) platform.
An algorithm analyzes the obtained sequences by comparing them with the reference human genome.
Through this analysis, the ratio (Fetal Fraction), number and quality of the baby’s DNA present in the blood of the expectant mother is statistically determined.
If the quality, number and ratio are appropriate, an evaluation is made about the targeted chromosomal anomalies using statistical models. According to this evaluation, high or low risk is determined, and the appropriate report is delivered to the expectant mother.
Promissium™
Non-Invasive Prenatal Screening Test
In our laboratory, we provide Promissium™ NIPT “basic” test for screening common trisomies and Promissium™ NIPT “genome-wide” test for a wider genome-wide screening covering all chromosomes.
Düzen®
Test Code
Test Name
Coverage
6837
Promissium™ NIPT
(Basic)
Trisomy 13
Trisomy 18
Trisomy21
Sex Chromosome Aneuploidies
6838
Promissium™ NIPT
(genome-wide)
Trisomy 13
Trisomy 18
Trisomy 21
Rare Autosomal Aneuploidies (RAAs) [genome-wide]
Partial deletions/duplications (≥7Mb) [genome-wide]
Sex Chromosome Aneuploidies
|
Düzen® Test Code |
Test Name | Coverage |
| 6837 |
Promissium™ NIPT (Basic) |
Trisomy 13 Trisomy 18 Trisomy21 Sex Chromosome Aneuploidies |
| 6838 |
Promissium™ NIPT (genome-wide) |
Trisomy 13 Trisomy 18 Trisomy 21 Rare Autosomal Aneuploidies (RAAs) [genome-wide] Partial deletions/duplications (≥7Mb) [genome-wide] Sex Chromosome Aneuploidies |
Duzen® Health Group’s Genetic Diseases Evaluation Center has been certified by Illumina®.
NIPT Test is Reliable
More reliable than traditional screening tests with over 99.9% <accuracy for trisomy 13, 18 and 21.
The combined false-positive rate for these common trisomies is only 0.13%.
The analytical performance values provided by Illumina® for the VeriSeq Test Platform are presented below.
| Trisomy 21 | Trisomy 18 | Trisomy 13 | Rare Autosomal Aneuploidies (RAAs) | Partial deletions/duplications (≥7Mb) | |
|
Sensitivity 2-sided 95% (Confidence Interval) |
>%99,9 %97,10 - %100 |
>%99,9 %91,40 - %100 |
>%99,9 %87,10 - %100 |
>%96,4 %82,30 - %99,40 |
>%74,1 %55,30 - %86,80 |
|
Specificity 2-sided 95% (Confidence Interval) |
%99,9 %99,63 - %99,97 |
%99,9 %99,64 - %99,97 |
%99,9 %99,64 - %99,97 |
%99,8 %99,49 - %99,92 |
%99,8 %99,49 - %99,92 |
Concordance rates for sex chromosome aneuploidies have been reported as 90.5% in Turner Syndrome (XO) and 100% in Klinefelter Syndrome (XXY) by Illumina® for the test platform used.
NIPT Test is Reliable
More reliable than traditional screening tests with over 99.9% <accuracy for trisomy 13, 18 and 21.
The combined false-positive rate for these common trisomies is only 0.13%.
The analytical performance values provided by Illumina® for the VeriSeq Test Platform are presented below.
|
Sensitivity 2-sided 95% CI |
Specificity 2-sided 95% CI |
|
| Trisomy 21 |
>%99,9 %97,10 - %100 |
%99,9 %99,63 - %99,97 |
| Trisomy 18 |
>%99,9 %91,40 - %100 |
%99,9 %99,64 - %99,97 |
| Trisomy 13 |
>%99,9 %87,10 - %100 |
%99,9 %99,64 - %99,97 |
| Rare Autosomal Aneuploidies (RAAs) |
>%96,4 %82,30 - %99,40 |
%99,8 %99,49 - %99,92 |
| Partial deletions/duplications (≥7Mb) |
>%74,1 %55,30 - %86,80 |
%99,8 %99,49 - %99,92 |
Concordance rates for sex chromosome aneuploidies have been reported as 90.5% in Turner Syndrome (XO) and 100% in Klinefelter Syndrome (XXY) by Illumina® for the test platform used.
Conditions Affecting Test’s Reliability
Multiple Pregnancy
Pregnancy with less than 8 weeks
Maternal organ transplantation
Maternal malignancy
Maternal or fetoplacental mosaicism
Maternal blood transfusion or bone marrow transplantation within the last 3 months
Maternal immunotherapy or stem cell therapy within the last 3 months
Intrauterine ex or nonviable twin
PromissiumTM NIPT Testing Process
Blood Collection from the Expectant Mother
It should be taken between 10 and 18 weeks of pregnancy. Peripheral blood sample, 10 ml, from the expectant mother is taken into the StreckTM tube. These specific tubes are provided to you by Duzen in the NIPT test box.
Delivery of the Blood Sample to Our Laboratory
Tubes containing collected blood samples should be delivered to our laboratory within 96 hours at +4°C together with the filled and signed Test Request & Consent Forms. Please contact us for your questions regarding the sample delivery to our laboratory.
Laboratory Turnaround Time
Samples sent to our laboratory are processed every Wednesday and results are given on Fridays each week.
Asking for a New Specimen
This test analyzes sequenced cell free fetal DNA (cfDNA) fragments that are present in mother’s blood and uses a statistical model based on fraction and quality of these sequenced fragments. Under certain conditions depending on the quality and fraction of these sequenced fragments, statistical model might not give a conclusive result within the targeted confidence intervals. In such cases an inconclusive test result is given, and a new sample is asked from the expectant mother.
Your results are shared with you and your doctor. Should you request, genetic counseling can also be given by our specialist physicians. When you get a high-risk result, if you wish to send an appropriate sample to our laboratory, chromosome examination will be performed free of charge for a definitive diagnosis.
Shipping Your Samples to Duzen Laboratory
Please note that Promissium NIPT Test Request and Consent Form must be filled and signed in all specimen submissions. The completed and signed form must be delivered to our laboratory together with the sample.
Please make sure that shipping conditions written on the form are properly followed when shipping samples to our laboratory.
Ankara
You can come to any of our branches and give your blood specimen for the Promissium™ NIPT.
İstanbul
You can come to any of our branches and give your blood specimen for the Promissium™ NIPT.
Mersin
You can come to any of our branches and give your blood specimen for the Promissium™ NIPT.
Adana
You can come to any of our branches and give your blood specimen for the Promissium™ NIPT.
If you are residing in cities where we do not have branches, you can still get your blood drawn and send your samples to our Genetic Diseases Evaluation Center through our Contract Laboratories in your province. For a list of our Contract Laboratories in your region please contact us.
About Us
Düzen Laboratories
Düzen® Laboratories Group was established in 1976 to perform necessary analytical measurements for supportive diagnosis and treatment follow-up, which is the most important element of effective medicine.
By expanding its scope and fields of activity to support the continuity of health together with its reliability in the clinical laboratory field and its responsiveness to a wide range of subjects, Duzen® Laboratories Group has become the most important brand in the laboratory field by using only its own equity over the years.
Since the day it was founded, Düzen® Laboratories Group has broken new ground in clinical laboratory in Turkey by aiming at the highest possible quality in the clinical diagnostics field.
Düzen Genetic Diseases Evaluation Center
Recognizing the increasing role of medical genetics in clinical medicine, we established our Düzen® Genetic Diseases Evaluation Center in 1998 under the roof of Düzen® Health Group.
Our Düzen® Genetic Diseases Evaluation Center serves our patients by using different new techniques such as fluorescent in situ hybridization (FISH), cytogenetic array and next generation DNA sequencing in the disciplines of molecular genetics, conventional cytogenetics and molecular cytogenetics.
Medical Genetic Specialists at our Düzen® Genetic Diseases Evaluation Center are at your service for your questions before and after clinical testing.
Our Düzen® Genetic Diseases Evaluation Center is accredited by the Turkish Accreditation Agency (TÜRKAK) within the scope of ISO 15189.
Contact Us
Düzen Genetic Diseases Evaluation Center
ANKARA
Cinnah Cd. Göreme Sk. Nazmi Bey İş Mer. No:1/7 Çankaya 06680
T: (312) 468 60 73
F: (312) 427 70 21
Working Hours
Monday – Friday: 08.00 – 19.00
Saturday: 08.30 – 18.00
Sunday: Close
İSTANBUL
