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What Is NIPT?
NIPT (Non-Invasive Prenatal Test) is a safe screening method that evaluates the chromosomal health of the baby by analyzing cell-free fetal DNA in the expectant mother's blood. RapidNIPT is the Genoks NIPT service brand built on advanced technology infrastructure, offering high accuracy, fast results and comprehensive prenatal screening in a single test.
NIPT Prenatal Evaluation Test
Reliable prenatal evaluation at an early stage. Identifying chromosomal abnormalities during pregnancy is an important process; however, invasive tests are not always suitable. Thanks to modern cfDNA analysis technology, NIPT allows high-accuracy assessment from the 10th week of pregnancy.
Comprehensive chromosomal examination with a single blood draw. RapidNIPT analyzes circulating cell-free fetal DNA (cfDNA) in the maternal blood to provide a comprehensive risk assessment for Trisomy 21 (Down syndrome), Trisomy 18, Trisomy 13 and other chromosomal differences. All analyses are conducted in Genoks's automated advanced-technology laboratory.
High accuracy, low uncertainty. cfDNA-based analyses are risk-free compared to invasive methods and reduce unnecessary risks taken in invasive procedures. RapidNIPT evaluates fetal genetic signals with high sensitivity using advanced molecular techniques.
A completely safe process for mother and baby.
The test is performed with only routine blood collection; it poses no risk to mother or baby. With fast turnaround and expert medical-genetics evaluation, it supports informed decision making during pregnancy.
Safe and Comprehensive for Your Pregnancy RapidNIPT Testi
Completely risk-free for mother and baby — whole-genome based next-generation sequencing (NGS) -based non-invasive prenatal screening test. It evaluates more than 90 chromosomal conditions with over 99% accuracy .
Non-invasive No invasive procedure required
Week 10 Performed from the 10th week of pregnancy
Whole genome cfDNA is analyzed at the whole-genome level
Local Analysis is performed in laboratories in Turkey
EMQN Participation in external quality assessment programs
ISO Processes aligned with ISO standards
- Genetic Evaluation Method Cell-free DNA data from the maternal blood is used to examine chromosomes for numerical differences.
- Non-Invasive Application The study is conducted only from a blood sample taken from the expectant mother; no procedure that intervenes with the pregnancy is performed.
- International Quality Framework Laboratory processes are structured to be aligned with EMQN external quality assessment programs and the relevant ISO standards.
- Structured Reporting Genetic evaluation results are presented in a standard report format designed to support clinical decision-making.
Parameters Evaluated by RapidNIPT
Autosomal Aneuploidies
| Monozomi 1 / Trizomi 1 | Monozomi 12 / Trizomi 12 |
| Monozomi 2 / Trizomi 2 | Monozomi 13 / Trizomi 13 (Patau Syndrome) |
| Monozomi 3 / Trizomi 3 | Monozomi 14 / Trizomi 14 |
| Monozomi 4 / Trizomi 4 | Monozomi 15 / Trizomi 15 |
| Monozomi 5 / Trizomi 5 | Monozomi 16 / Trizomi 16 |
| Monozomi 6 / Trizomi 6 | Monozomi 17 / Trizomi 17 |
| Monozomi 7 / Trizomi 7 | Monozomi 18 / Trizomi 18 (Edwards Syndrome) |
| Monozomi 8 / Trizomi 8 | Monozomi 19 / Trizomi 19 |
| Monozomi 9 / Trizomi 9 | Monozomi 20 / Trizomi 20 |
| Monozomi 10 / Trizomi 10 | Monozomi 21 / Trizomi 21 (Down Syndrome) |
| Monozomi 11 / Trizomi 11 | Monozomi 22 / Trizomi 22 |
Sex Chromosome Aneuploidies
45,X Numerical changes associated with Turner syndrome.
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 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 | Alfa Talasemi, Intellectual Disability Syndrome (16p13.3) |
| 17q21.31 Duplication Syndrome | Angelman S. / Prader-Willi S. (15q11-q13) |
| Aniridia II & WAGR Syndrome (11p13) | Holoprosensefali Tip 4 (18p11.31) |
| Bannayan-Riley-Ruvalcaba S. (BRRS) (10q23.31) | Holoprosensefali Tip 6 (2q37.1-q37.3) |
| Branchiootorenal Dysplasia S. 1 / Melnick-Fraser S. (8q13.3) | Jacobsen Syndrome (11q24-q25) |
| Cat-Eye Syndrome (22q11.21) | Langer-Giedion Syndrome (8q23.3-q24.11) |
| Kromozom 10q Deletion Syndrome (10q26) | Lökodistrofi Syndrome (11q14.2-q14.3) |
| Kromozom 10q22.3-q23.31 Deletion Syndrome | Hipofiz Hipoplazisi ile Olan Mikroftalmi S. Tip 6 (14q22.2-q22.3) |
| Kromozom 18p Deletion Syndrome | Monozomi 9p Syndrome (9p22.3-p23) |
| Kromozom 18q Deletion Syndrome | Potocki-Lupski Syndrome (17p11.2 Duplikasyon S.) |
| Cornelia de Lange Syndrome (5p13.2) | 6q16.3 Delesyonu |
| Cowden Syndrome (10q23.31) | Rieger Syndrome Tip 1 (4q25) |
| Cri du Chat Syndrome (5p15.2) | Saethre-Chotzen Syndrome (7p21.1) |
| Dandy-Walker Syndrome (3q22-q24) | İşitme Kaybı - İnfertilite Syndrome (15q15.3) |
| Konjenital Diyafram Hernisi (HCD / DIH1) (15q26.1) | Smith-Magenis Syndrome (17p11.2) |
| DiGeorge 2 Syndrome (DGS2) - (10p14-p13) | Yarık El-Ayak Malformasyon Tip 5 (2q31) |
| Distal Artrogripozis Tip 2B (9p13.3;11p15.5;17p13.1) | Yarık El-Ayak Malformasyon Tip 3 (10q24) |
| Dyggve-Melchior-Clausen Syndrome (18q21.1) | Trichorhinophalangeal Syndrome Tip 1 (8p23.3) |
| Feingold Syndrome I (2p24.3) | Van der Woude Syndrome 1 (1q32.2-q41) |
| Holoprosensefali Tip 1 (21q22.3) | Wilms Tümör Tip 1 (11p13) |
| Durum | Hassasiyet (%) |
|---|---|
| Trizomi 21 | >99 |
| Trizomi 18 | >99 |
| Trizomi 13 | >99 |
| Nadir otozomal anöploidiler | 96,4 |
| Delesyon/Duplikasyon ≥ 7Mb | 74,1 |
| Durum | Hassasiyet (%) | Durum | Hassasiyet (%) |
|---|---|---|---|
| 45,X | 90,5 | 47,XXY | >99,9 |
| 47,XXX | >99,9 | 47,XYY | 91,7 |
| Yöntem | |
|---|---|
| RapidNIPT® Illumina VeriSeq NIPT Solution v2 teknolojisini kullanmaktadır. RapidNIPT® anneden alınan kan numunesinden izole edilen cfDNA (serbest DNA) analizini, Tüm Genoma Dayalı Yeni Nesil Dizileme teknolojisi kullanarak gerçekleştirir. |
Parameters Evaluated by RapidNIPTPlus
Autosomal Aneuploidies
| Monozomi 1 / Trizomi 1 | Monozomi 12 / Trizomi 12 |
| Monozomi 2 / Trizomi 2 | Monozomi 13 / Trizomi 13 (Patau Syndrome) |
| Monozomi 3 / Trizomi 3 | Monozomi 14 / Trizomi 14 |
| Monozomi 4 / Trizomi 4 | Monozomi 15 / Trizomi 15 |
| Monozomi 5 / Trizomi 5 | Monozomi 16 / Trizomi 16 |
| Monozomi 6 / Trizomi 6 | Monozomi 17 / Trizomi 17 |
| Monozomi 7 / Trizomi 7 | Monozomi 18 / Trizomi 18 (Edwards Syndrome) |
| Monozomi 8 / Trizomi 8 | Monozomi 19 / Trizomi 19 |
| Monozomi 9 / Trizomi 9 | Monozomi 20 / Trizomi 20 |
| Monozomi 10 / Trizomi 10 | Monozomi 21 / Trizomi 21 (Down Syndrome) |
| Monozomi 11 / Trizomi 11 | Monozomi 22 / Trizomi 22 |
Sex Chromosome Aneuploidies
45,X Numerical changes associated with Turner syndrome.
47,XXY Klinefelter syndrome.
47,XXX Triple X syndrome.
47,XYY Jacobs syndrome.
| RapidNIPTPlus ile İncelenen DELESYON / DUPLİKASYON SENDROMLARI | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 22q11.2 delesyonu (DiGeorge sendromu) (3–10 Mb içindir.) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Durum | Hassasiyet (%) |
|---|---|
| Trizomi 21 | %99.17 |
| Trizomi 18 | 98.24 |
| Trizomi 13 | >99.9 |
| Nadir otozomal anöploidiler | NA |
| Delesyon/Duplikasyon > 10Mb | %88.89 |
| Delesyon/Duplikasyon < 10Mb | %72.73 |
| Durum | Hassasiyet (%) | Durum | Hassasiyet (%) |
|---|---|---|---|
| 45,X | >99.9 | 47,XXY | >99,9 |
| 47,XXX | >99,9 | 47,XYY | >99.9 |
| Yöntem | |
|---|---|
| RapidNIPTPlus anneden alınan kan numunesinden izole edilen cfDNA (serbest DNA) analizini, BGI Teknolojisi ile Tüm Genoma Dayalı Dizileme yapan DNBSEQ-G400 platformunda CE-IVD protokolüne uygun gerçekleştirir |
