
Onkoloji Testi Nedir?
Kasım 14, 2025
NIPT Nedir?
Aralık 16, 2025
Onkoloji Testi Nedir?
Kasım 14, 2025
NIPT Nedir?
Aralık 16, 2025
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%.
- 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 1 | Monosomy 12 / Trisomy 12 |
| Monosomy 2 / Trisomy 2 | Monosomy 13 / Trisomy 13 (Patau Syndrome) |
| Monosomy 3 / Trisomy 3 | Monosomy 14 / Trisomy 14 |
| Monosomy 4 / Trisomy 4 | Monosomy 15 / Trisomy 15 |
| Monosomy 5 / Trisomy 5 | Monosomy 16 / Trisomy 16 |
| Monosomy 6 / Trisomy 6 | Monosomy 17 / Trisomy 17 |
| Monosomy 7 / Trisomy 7 | Monosomy 18 / Trisomy 18 (Edwards Syndrome) |
| Monosomy 8 / Trisomy 8 | Monosomy 19 / Trisomy 19 |
| Monosomy 9 / Trisomy 9 | Monosomy 20 / Trisomy 20 |
| Monosomy 10 / Trisomy 10 | Monosomy 21 / Trisomy 21 (Down Syndrome) |
| Monosomy 11 / Trisomy 11 | Monosomy 22 / Trisomy 22 |
Sex Chromosome Aneuploidies
Deletion / Duplication Syndromes (For deletions and duplications ≥ 7 Mb)
| 11q11–q13.3 Duplication Syndrome | 1p36 Deletion Syndrome |
| 12q14 Deletion Syndrome | 1q41–q42 Deletion Syndrome |
| 14q11–q22 Deletion Syndrome | Glass Syndrome (2q33.1) |
| 15q26 Overgrowth Syndrome | 5q21.1–q31.2 Deletion Syndrome |
| 16p11.2–p12.2 Deletion Syndrome | 8p23.1 Deletion Syndrome |
| 16p11.2–p12.2 Duplication Syndrome | 8p23.1 Duplication Syndrome |
| 17q21.31 Deletion Syndrome | Alpha Thalassemia–Intellectual Disability Syndrome (16p13.3) |
| 17q21.31 Duplication Syndrome | Angelman / 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) |
| Condition | Sensitivity (%) |
|---|---|
| Trisomy 21 | >99 |
| Trisomy 18 | >99 |
| Trisomy 13 | >99 |
| Rare autosomal aneuploidies | 96.4 |
| Deletion/Duplication ≥7 Mb | 74.1 |
| 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 1 | Monosomy 12 / Trisomy 12 |
| Monosomy 2 / Trisomy 2 | Monosomy 13 / Trisomy 13 (Patau Syndrome) |
| Monosomy 3 / Trisomy 3 | Monosomy 14 / Trisomy 14 |
| Monosomy 4 / Trisomy 4 | Monosomy 15 / Trisomy 15 |
| Monosomy 5 / Trisomy 5 | Monosomy 16 / Trisomy 16 |
| Monosomy 6 / Trisomy 6 | Monosomy 17 / Trisomy 17 |
| Monosomy 7 / Trisomy 7 | Monosomy 18 / Trisomy 18 (Edwards Syndrome) |
| Monosomy 8 / Trisomy 8 | Monosomy 19 / Trisomy 19 |
| Monosomy 9 / Trisomy 9 | Monosomy 20 / Trisomy 20 |
| Monosomy 10 / Trisomy 10 | Monosomy 21 / Trisomy 21 (Down Syndrome) |
| Monosomy 11 / Trisomy 11 | Monosomy 22 / Trisomy 22 |
Sex Chromosome Aneuploidies
| DELETION / DUPLICATION SYNDROMES Evaluated with RapidNIPTPlus | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |











