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PRIMIS Non-Invasive Prenatal Test

PRIMIS Non-Invasive Prenatal Test

Prenatal test is a test that allows the expectant mother to learn about genetic problems that may be present in her baby before birth. It detects fetal chromosomal aneuploidies and microdeletions/duplications by scanning fetal DNA from maternal blood.

NIPT enables detection of fetal fraction as well as aneuploidy with unparalleled accuracy using new Targeted Enrichment Technology. Targeted regions, selected chromosomes and chromosomal regions are captured, Bioinformatics technologies and analyzed proprietary genomic microdeletions are used for aneuploidy detection.

  • Test:
    NIPT (Fetal DNA Screening Test)
  • Method:
    Next Generation Sequencing
  • Analysis Time:
    10-14 days
  • Sample Type:
    Blood
  • Sample Tube:
    Cell Free DNA Tube
  • Storage Conditions:
    Room temperature
  • Transport Conditions:
    The same day; At room temperature
  • Rejection Criteria:
    Hemolyzed, Lipemic, Icteric samples are not accepted

Why PRIMIS?

  • It provides reliable results for singleton and twin pregnancies.
  • IVF can be used during pregnancies.
  • It is a comprehensive test for screening aneuploidies and microdeletions.
  • Primis Test analysis is completed within 10-12 days.

Just taking blood from the mother is sufficient; It does not require any other action. There are no special conditions (starvation, etc.) required for blood collection.

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From the 10th week of pregnancy

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Transport to our laboratory

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Isolation

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Clinical Laboratory Analysis

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Report

What do we detect with the Primis NIPT Test?

23 pairs of chromosomes and 86 deletions/duplications can be scanned with Primis.
DNA Image

Early Detectıon Advantage

The fact that it can be applied from the 10th week of pregnancy provides an advantage for both the doctor and the family for decisions to be made in the clinic in the later stages.

Safe Method Reliable Results

In other screening methods, invasive methods are recommended, but these methods carry low or infection risks. In addition to the limited reliability of routine screening tests, the false positive rate and false negative rate are also high. However, the false negative rate in the NIPT test is very low.

What do we detect with PRIMIS?

Patau Syndrome (Trisomy 13)
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Patau syndrome is a very serious chromosomal condition that occurs when there is an extra copy of chromosome 13, causing severe intellectual disability and physical defects. It occurs in approximately 1 in 16,000 newborn babies.1 Unfortunately, most babies with Patau syndrome miscarry, and those born with the condition usually live only a short time. While the chance of having a baby with Patau syndrome increases with the age of the woman, it can occur in any pregnancy.

Edwards Syndrome (Trisomy 18)
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Edwards syndrome is a very serious chromosomal condition that occurs when there is an extra copy of chromosome 18 and causes severe mental and physical disabilities. It occurs in approximately 1 in 5,000 newborn babies.1 Unfortunately, most babies with Edwards syndrome miscarry, and most of those born with the condition live only a short time. Women of any age can have a child with trisomy 18, but the likelihood increases as the mother’s age increases.

Down Syndrome (Trisomy 21)
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Down syndrome is a common chromosomal condition that occurs when there is an extra copy of chromosome 21. It occurs in about 1 in 800 babies and is associated with differences in physical and mental development, ranging from mild to severe. Women of any age can have a child with Down syndrome, but this probability increases as the mother’s age increases.

Potential Medical Conditions:

  • Hypotonia (floppy muscle tone)
  • Mild to moderate intellectual disability
  • Congenital heart disorders
  • Other developmental problems

PRIMIS test detects all Trisomies as well as testing the most common fetal aneuploidies and genetic anomalies.

Other Chromosomes
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  • Trisomy1
  • Trisomy2
  • Trisomy3
  • Trisomy4
  • Trisomy5
  • Trisomy6
  • Trisomy7
  • Trisomy8
  • Trisomy9
  • Trisomy10
  • Trisomy11
  • Trisomy12
  • Trisomy14
  • Trisomy15
  • Trisomy16
  • Trisomy17
  • Trisomy19
  • Trisomy20
  • Trisomy22

Gender Chromosome Aneuploidies
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  • Turner Syndrome
    (Monozomi X)
  • Triple X Syndrome
    (Trizomi X)
  • Klinefelter Syndrome
    (XXY)
  • Jacobs Syndrome
    (XYY)
  • XXYY Syndrome

Delestions and Duplications
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  • 22q11.2 (DiGeorge Sendromu)
  • Prader-Willi Sendromu
  • Angelman Sendromu (15q11.2-q13)
  • Cri-Du-Chat Sendromu (5p15.2)
  • Wolf-Hirschhorn Sendromu (4p16.3)
  • 1p36 Delesyonu
  • Parsiyel Monozomi 1p
  • Monozomi 1q21→q32
  • Monozomi 1q42→qter
  • Trizomi 1q23→qter
  • Parsiyel Monozomi 2p
  • Parsiyel Monozomi 2p
  • Parsiyel Trizomi 2p
  • Parsiyel Monozomi 2q
  • Parsiyel Trizomi 2q
  • Monozomi 3p11→p21
  • Monozomi 3p25→pter
  • Parsiyel Trizomi 3p
  • Parsiyel Monozomi 3q
  • Parsiyel Trizomi 3q
  • Parsiyel Monozomi
  • Parsiyel Trizomi 3q
  • Parsiyel Monozomi 4p
  • Parsiyel Monozomi 4p
  • Parsiyel Trizomi 4p
  • Monozomi 4q21→q31
  • Monozomi 4q31→qter
  • Parsiyel Trizomi 4q
  • Parsiyel Monozomi 4p
  • Parsiyel Trizomi 4q
  • Parsiyel Trizomi 5p
  • Parsiyel Monozomi 5q
  • Parsiyel Trizomi 5q
  • Parsiyel Trizomi 6p
  • Parsiyel Monozomi 6q
  • Parsiyel Monozomi 6q
  • Parsiyel Trizomi 6q
  • Parsiyel Trizomi 12q
  • Monozomi 13q14
  • Monozomi 13q21→qter
  • Trizomi 13cen→q14
  • Trizomi 13q21→qter
  • Parsiyel Trizomi 14
  • Trizomi 14q24-qter
  • Süpernumerik inv dup (15)
  • Trizomi 15q22→qter
  • Parsiyel Trizomi 16p
  • Parsiyel Monozomi 16q
  • Parsiyel Trizomi 16q
  • Trizomi 17pter→q21
  • Parsiyel Monozomi 18p
  • Parsiyel Tetrazomi18p
  • Trizomi 18pter→q12
  • Monozomi 18q21→qter
  • Trizomi 18q12→qter
  • Parsiyel Monozomi 20p
  • Trizomi 20p
  • Parsiyel Monozomi 21
  • 1p36 Delesyon Sendromu
  • 2p16.1-p15 Delesyon Sendromu
  • 2q33.1 Delesyon Sendromu
  • 2q37 Delesyon Sendromu
  • 3p Delesyon Sendromu
  • Parsiyel Monozomi 7p
  • Parsiyel Trizomi 7p
  • Monozomi 7q32→qter
  • Trizomi 7q21→q31
  • Trizomi 7q32→qter
  • Parsiyel Trizomi 8q
  • Parsiyel Monozomi 9p
  • Parsiyel Trizomi 9p
  • Parsiyel Monozomi 9q
  • Parsiyel Trizomi 9q
  • Parsiyel Monozomi 10p
  • Parsiyel Trizomi 10p
  • Parsiyel Monozomi 10q
  • Parsiyel Trizomi 10q
  • Parsiyel Trizomi 11p
  • Parsiyel Monozomi 11q
  • Parsiyel Trizomi 11q
  • Parsiyel Monozomi 12p
  • Parsiyel Trizomi 12p
  • 4p16.31 Delesyon Sendromu
  • Cri-du-chat Sendromu
  • 7q11.2 Delesyon Sendromu
  • Langer-Giedion Sendromu
  • 8p23.1 Delesyon Sendromu
  • 8p23.1 Duplikasyonsendromu
  • 11q23.3-q25 Delesyon Sendromu
  • Angelman Sendromu
  • Prader–Willi Sendromu
  • 15q26 Duplikasyon Sendromu
  • 16p12.2 Mikrodelesyon Sendromu
  • 17p13.3 Delesyon Sendromu
  • Smith-Magenis Sendromu
  • Potocki-Lupski Sendromu
  • 22q11.2 Delesyon Sendromu
  • Parsiyel Monozomi 20p
  • Trizomi 20p
  • Parsiyel Monozomi 21

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