Onkogenoks onkoloji ve kanser genetiği çözümleri
Onkoloji Testi Nedir?
Kasım 14, 2025
NIPT Nedir?
Aralık 16, 2025
Onkogenoks onkoloji ve kanser genetiği çözümleri
Onkoloji Testi Nedir?
Kasım 14, 2025
NIPT Nedir?
Aralık 16, 2025

NIPT Prenatal Test

What Is the NIPT Test?

NIPT (Non-Invasive Prenatal Test) is a safe screening method that allows the evaluation of a baby’s chromosomal health through the analysis of cell-free fetal DNA found in the expectant mother’s blood. RapidNIPT is Genoks’ NIPT service brand, developed with advanced technological infrastructure, offering high accuracy, rapid results, and comprehensive prenatal screening in a single test.

NIPT Prenatal Screening Test

Reliable prenatal screening at an early stage. Identifying chromosomal abnormalities during pregnancy is a critical process; however, invasive tests may not always be appropriate. Thanks to modern cfDNA analysis technology, NIPT enables highly accurate screening from as early as the 10th week of pregnancy.

Comprehensive chromosomal assessment from a single blood sample. RapidNIPT analyzes cell-free fetal DNA (cfDNA) circulating in maternal blood to provide a comprehensive risk assessment for Trisomy 21 (Down syndrome), Trisomy 18, Trisomy 13, and other chromosomal abnormalities. All analyses are performed in Genoks’ fully automated, high-technology laboratory.

High accuracy with reduced uncertainty. cfDNA-based analysis is non-invasive and helps minimize unnecessary risks associated with invasive procedures. RapidNIPT evaluates fetal genetic signals with high sensitivity using advanced molecular techniques.

A completely safe process for both mother and baby.
The test requires only a routine blood draw and poses no risk to either the mother or the fetus. With fast turnaround times and expert medical genetics evaluation, it supports informed decision-making throughout pregnancy.

 

A Safe and Comprehensive RapidNIPT Test for Your Pregnancy

A completely risk-free, whole-genome–based, next-generation sequencing (NGS) non-invasive prenatal screening test for both mother and baby. Evaluates more than 90 chromosomal conditions with an

accuracy rate exceeding 99%.

Non-invasive No invasive procedures required
Week 10 Applicable from the 10th week of pregnancy
Whole genome cfDNA analyzed at the whole-genome level
Local Analysis performed in laboratories in Turkey
EMQN Participation in external quality assessment programs
ISO Processes compliant with ISO standards
  • Genetic Assessment Method Chromosomes are evaluated for numerical abnormalities using cell-free DNA data obtained from maternal blood.
  • Non-Invasive Application The analysis is performed solely using a blood sample from the expectant mother, without any intervention that affects the pregnancy.
  • International Quality Framework Laboratory workflows are structured in compliance with EMQN external quality assessment programs and relevant ISO standards.
  • Structured Reporting Genetic evaluation results are presented in a standardized report format designed to support clinical decision-making.

Parameters Assessed with RapidNIPT

Autosomal Aneuploidies

Monosomy 1 / Trisomy 1Monosomy 12 / Trisomy 12
Monosomy 2 / Trisomy 2Monosomy 13 / Trisomy 13 (Patau Syndrome)
Monosomy 3 / Trisomy 3Monosomy 14 / Trisomy 14
Monosomy 4 / Trisomy 4Monosomy 15 / Trisomy 15
Monosomy 5 / Trisomy 5Monosomy 16 / Trisomy 16
Monosomy 6 / Trisomy 6Monosomy 17 / Trisomy 17
Monosomy 7 / Trisomy 7Monosomy 18 / Trisomy 18 (Edwards Syndrome)
Monosomy 8 / Trisomy 8Monosomy 19 / Trisomy 19
Monosomy 9 / Trisomy 9Monosomy 20 / Trisomy 20
Monosomy 10 / Trisomy 10Monosomy 21 / Trisomy 21 (Down Syndrome)
Monosomy 11 / Trisomy 11Monosomy 22 / Trisomy 22

Sex Chromosome Aneuploidies

45,X Turner syndrome–associated numerical abnormalities.
47,XXY Klinefelter syndrome.
47,XXX Triple X syndrome.
47,XYY Jacobs syndrome.

Deletion / Duplication Syndromes (For deletions and duplications ≥ 7 Mb)

11q11–q13.3 Duplication Syndrome1p36 Deletion Syndrome
12q14 Deletion Syndrome1q41–q42 Deletion Syndrome
14q11–q22 Deletion SyndromeGlass Syndrome (2q33.1)
15q26 Overgrowth Syndrome5q21.1–q31.2 Deletion Syndrome
16p11.2–p12.2 Deletion Syndrome8p23.1 Deletion Syndrome
16p11.2–p12.2 Duplication Syndrome8p23.1 Duplication Syndrome
17q21.31 Deletion SyndromeAlpha Thalassemia–Intellectual Disability Syndrome (16p13.3)
17q21.31 Duplication SyndromeAngelman / Prader–Willi Syndrome (15q11–q13)
Aniridia II & WAGR Syndrome (11p13)Holoprosencephaly Type 4 (18p11.31)
Bannayan–Riley–Ruvalcaba Syndrome (10q23.31)Jacobsen Syndrome (11q24–q25)
Cat-Eye Syndrome (22q11.21)Smith–Magenis Syndrome (17p11.2)
Cri du Chat Syndrome (5p15.2)Wilms Tumor Type 1 (11p13)
ConditionSensitivity (%)
Trisomy 21>99
Trisomy 18>99
Trisomy 13>99
Rare autosomal aneuploidies96.4
Deletion/Duplication ≥7 Mb74.1
Method
RapidNIPT® utilizes Illumina VeriSeq NIPT Solution v2 technology. Cell-free DNA (cfDNA) isolated from maternal blood is analyzed using whole-genome–based next-generation sequencing (NGS).

Parameters Evaluated with RapidNIPTPlus

Autosomal Aneuploidies

Monosomy 1 / Trisomy 1Monosomy 12 / Trisomy 12
Monosomy 2 / Trisomy 2Monosomy 13 / Trisomy 13 (Patau Syndrome)
Monosomy 3 / Trisomy 3Monosomy 14 / Trisomy 14
Monosomy 4 / Trisomy 4Monosomy 15 / Trisomy 15
Monosomy 5 / Trisomy 5Monosomy 16 / Trisomy 16
Monosomy 6 / Trisomy 6Monosomy 17 / Trisomy 17
Monosomy 7 / Trisomy 7Monosomy 18 / Trisomy 18 (Edwards Syndrome)
Monosomy 8 / Trisomy 8Monosomy 19 / Trisomy 19
Monosomy 9 / Trisomy 9Monosomy 20 / Trisomy 20
Monosomy 10 / Trisomy 10Monosomy 21 / Trisomy 21 (Down Syndrome)
Monosomy 11 / Trisomy 11Monosomy 22 / Trisomy 22

Sex Chromosome Aneuploidies

45,X Numerical abnormalities associated with Turner syndrome.
47,XXY Klinefelter syndrome.
47,XXX Triple X syndrome.
47,XYY Jacobs syndrome.

 

DELETION / DUPLICATION SYNDROMES Evaluated with RapidNIPTPlus
Chromosome 1p36 deletion syndrome Dandy–Walker syndrome Chromosome 5q14.3 deletion syndrome
Chromosome 1q41–q42 deletion syndrome Chromosome 3q13.31 deletion syndrome Chromosome 5q12 deletion syndrome
Chromosome 1p32–p31 deletion syndrome Distal chromosome 3p duplication syndrome Chromosome 5p13 duplication syndrome
Chromosome 2p16.1–p15 deletion syndrome Chromosome 3q duplication syndrome Chromosome 5q duplication syndrome
Chromosome 2q33.1 deletion syndrome Chromosome 4p16.3 deletion syndrome Chromosome 6pter–p24 deletion syndrome
Chromosome 2q31.1 duplication syndrome Chromosome 4q21 deletion syndrome Chromosome 6q24–q25 deletion syndrome
Chromosome 2q37 deletion syndrome Chromosome 4p duplication syndrome Chromosome 6q11–q14 deletion syndrome
Chromosome 2q31.1 microdeletion syndrome Distal chromosome 4q duplication Chromosome 6p deletion
Chromosome 2q duplication Distal chromosome 4q deletion Chromosome 6q15–q23 deletion syndrome
Chromosome 3pter–p25 deletion syndrome Cri-du-Chat syndrome Chromosome 6q25–qter deletion syndrome
Chromosome 6q26–q27 deletion syndrome Chromosome 11p11.2 deletion syndrome Chromosome 16p12.2–p11.2 duplication syndrome
Chromosome 7q deletion Jacobsen syndrome Chromosome 16p13.3 deletion syndrome
Chromosome 7q11.23 deletion syndrome Chromosome 11q23 deletion syndrome Chromosome 16p13.3 duplication syndrome
Chromosome 7q21–q32 deletion Chromosome 12q14 microdeletion syndrome Proximal chromosome 16q duplication
Chromosome 7q31–q32 deletion Chromosome 12p12.1 microdeletion syndrome Smith–Magenis syndrome
Chromosome 8p23.1 deletion syndrome Chromosome 12p duplication Chromosome 17p13.3 deletion syndrome
Chromosome 8p23.1 duplication syndrome Chromosome 13q14 deletion syndrome Potocki–Lupski syndrome
Langer–Giedion syndrome Distal chromosome 13q deletion Chromosome 17p13.3 duplication syndrome
Chromosome 8q22.1 deletion syndrome Chromosome 14q11–q22 deletion syndrome Yuan–Harel–Lupski syndrome
Chromosome 8q22.1 duplication syndrome Chromosome 14q22 deletion syndrome Chromosome 17p duplication
Chromosome 8p duplication Proximal chromosome 14q deletion Chromosome 18p deletion syndrome
Chromosome 8q duplication Chromosome 14q duplication Distal chromosome 18q deletion syndrome
Chromosome 9p deletion syndrome Angelman / Prader–Willi syndrome Alagille syndrome type 1
Chromosome 9p duplication Chromosome 15q26–qter deletion syndrome Chromosome 20p duplication
DiGeorge syndrome type 2 Levy–Shanske syndrome Chromosome 21q22 deletion
Chromosome 10q22.3–q23.2 deletion syndrome Chromosome 15q14 deletion syndrome Chromosome Xq22.3 deletion syndrome
Chromosome 10q26 deletion syndrome Chromosome 15q24 microdeletion syndrome Chromosome Xp11.23–p11.22 duplication syndrome
Chromosome 10p12–p11 deletion syndrome Chromosome 15q26 overgrowth syndrome Chromosome Xp21 deletion syndrome
Chromosome 10p duplication Distal chromosome 15q deletion Chromosome Xq27.3–q28 duplication syndrome
Chromosome 11p13 deletion syndrome Chromosome 16p12.2–p11.2 deletion syndrome Chromosome Xq21 deletion syndrome
22q11.2 deletion (DiGeorge syndrome) (for 3–10 Mb)
Condition Sensitivity (%)
Trisomy 21

%99.17

Trisomy 18

98.24

Trisomy 13 >99.9
Rare autosomal aneuploidies NA
Deletion/Duplication > 10 Mb

%88.89

Deletion/Duplication < 10 Mb

%72.73

Condition Sensitivity (%) Condition Sensitivity (%)
45,X

>99.9

47,XXY >99,9
47,XXX >99,9 47,XYY >99.9
Method

RapidNIPTPlus performs analysis of cfDNA (cell-free DNA) isolated from maternal blood using the DNBSEQ-G400 platform, which enables whole-genome–based sequencing with BGI technology, in compliance with the CE-IVD protocol.