What is RapidNIPT?
RapidNIPT is an advanced level genetic screening test that screens 70 different chromosomal disease with new generation sequencing based on whole genome and is riskless for both mother and the baby.RapidNIPT uses Illumina VeriSeq NIPT Solution v2 technology.
In addition to RapidNIPT test parameters, rare numerical chromosomal anomalies that are considered to be belonged to the baby and deletion/duplications in significant multitude that are detected in sequencing results are also reported.
Human Chromosomes
Deletion is characterized with the loss in a chromosome segment while duplication is characterized with the increase. Size, location and containing genes of deletion/duplication determine the clinical features of possible syndrome.
Deletion/duplication syndromes may cause growth/developmental retardation, cognitive deficiency, behavioral problems, feeding difficulties, changes in muscular tonus, seizures, dysmorphic indications and several malformations.
RapidNIPT SCANNED DELESION / DUPLICATION SYNDROMES (* for ≥ 7 Mb deletions and duplications.)
- 11q11-q13.3 Duplication Syndrome
- 12q14 Deletion Syndrome
- 14q11-q22 Deletion Syndrome
- 15q26 Overgrowth Syndrome
- 16p11.2-p12.2 Deletion Syndrome
- 16p11.2-p12.2 Duplication Syndrome
- 17q21.31 Deletion Syndrome
- 17q21.31 Duplication Syndrome
- 1p36 Deletion Syndrome
- 1q41-q42 Deletion Syndrome
- Glass Syndrome (2q33.1)
- 5q21.1-q31.2 Deletion Syndrome
- 8p23.1 Deletion Syndrome
- 8p23.1 Duplication Syndrome
- Alpha Thalassemia, Mental Retardation Syndrome (16p13.3)
- Androgen Insensitivity Syndrome (Xq12)
- Angelman Syndrome/Prader-Willi Syndrome (15q11-q13)
- Aniridia II & WAGR Syndrome (11p13)
- Bannayan-Riley-Ruvalcaba Syndrome (BRRS) (10q23.31)
- Branchiootorenal Dysplasia S. 1 / Melnick-Fraser S. (8q13.3)
- Cat-Eye Syndrome (22q11.21)
- Chromosome 10q Deletion Syndrome (10q26)
- Chromosome 10q22.3-q23.31 Deletion Syndrome
- Chromosome 18p Deletion Syndrome
- Chromosome 18q Deletion Syndrome
- Cornelia de Lange Syndrome (5p13.2)
- Cowden Syndrome (10q23.31)
- Cri du Chat Syndrome (5p15.2)
- Dandy-Walker Syndrome (3q22-q24)
- Congenital Diaphragmatic Hernia (HCD / DIH1) (15q26.1)
- DiGeorge 2 Syndrome (DGS2) - (10p14-p13)
- DistalArthrogryposisType 2B (9p13.3;11p15.5;17p13.1)
- Duchenne Muscular Dystrophy;
- Duchenne / Becker Muscular Dystrophy (Xp21.2-p21.1)
- Dyggve-Melchior-Clausen Syndrome (18q21.1)
- Feingold's Syndrome I (2p24.3)
- Holoprosencephaly Type 1 (21q22.3)
- Holoprosencephaly Type 4 (18p11.31)
- Holoprosencephaly Type 6 (2q37.1-q37.3)
- Jacobsen Syndrome (11q24-q25)
- Langer-Giedion Syndrome (8q23.3-q24.11)
- Leukodystrophy S. (11q14.2-q14.3)
- Growth Hormone Deficiency
- Mental Retardation S. (Xq26-q27)
- Microphthalmos with Linear Skin Defects (Xp22.2)
- Microphthalmia S. Type 6 with Pituitary Hypoplasia
- (14q22.2-q22.3)
- Monosomy 9p Syndrome (9p22.3-p23)
- Orofacial Digital Syndrome (Xp22.2)
- X-Linked Panhypopituitarism (Xq26-q27)
- Potocki-Lupski Send. (17p11.2 Duplication Syndrome)
- Deletion 6q16.3
- Rieger Syndrome Type 1 (4q25)
- Saethre-Chotzen Syndrome (7p21.1)
- Hearing Loss - Infertility Syndrome (15q15.3)
- Smith-Magenis Syndrome (17p11.2)
- Cleft Hand-Foot Malformation Type 5 (2q31)
- Cleft Hand-Foot Malformation Type 3 (10q24)
- Trichorhinophalangeal Syndrome Type 1 (8p23.3)
- Van der Woude Syndrome 1 (1q32.2-q41)
- Wilms Tumor Type 1 (11p13)
- X-Linked Lymphoproliferative Syndrome (Xq25)
- Xp11.22-p11.23 Duplication Syndrome
Frequently Asked Questions
1What is NIPT Test?
NIPT is an abbreviation for non-invasive prenatal testing.
2What does Non-Invasive mean?
It is a medical term used for conditions that do not require surgical operation.
3What is RapidNIPT?
RapidNIPT is the NIPT brand belonging to Genoks Genetic Diseases Evaluation Center. All stages of the RapitNIPT Test are carried out in Genoks Ankara Laboratories with automated devices.
4When can I have RapidNIPT?
RapidNIPT can be performed from the 10th week of pregnancy.
1How is RapidNIPT done?
The RapidNIPT testing process begins with just giving a tube of blood sample. Analyzes cfDNA (includes maternal and fetal DNA) isolated from maternal blood sample using Next Generation Sequencing technology with Whole Genome Sequencing method
2What are RapidNIPT Side Effects?
RapidNIPT, which works with only 1 tube of blood sample, does not pose any risk to the mother and baby.
3What diseases can the RapidNIPT® Test be used to screen for?
Unlike other NIPT (Non-invasive Prenatal Screening Test) tests, RapidNIPT® Test is different from Trisomy 21 (Downs Syndrome), Trisomy 13 (Patau Syndrome), Trisomy 18 (Edwards Syndrome), Trisomy 9, Trisomy 16, It can look at 70 chromosomal diseases, including trisomy 22, gonosomal anomalies and microdeletion / microduplication syndromes of certain size. Incidental structural and numerical chromosomal diseases, which are determined as a result of the sequence and thought to belong to the fetus, can also be stated in the report, apart from the parameters examined.
4When Will I Have My RapidNIPT Result?
RapidNIPT starts working as soon as your blood sample reaches our central laboratory. The result time is 10(+/-2) business days.
1Why Is My RapidNIPT Result Delayed?
In some cases samples may need to be reanalyzed and there may be a short delay in getting your result.
2Is RapidNIPT® Test a diagnostic test or a screening test?
RapidNIPT® Test is accepted as a screening test like other NIPT tests all over the world.
3Why Should I Have RapidNIPT If It Cannot Diagnose?
Since diagnostic tests are invasive procedures, they may pose a risk to the mother and baby. RapidNIPT, on the other hand, takes you and your baby away from unnecessary risks with an accuracy rate of >99%.
4Does RapidNIPT Diagnose Genetic Diseases?
Like all other NIPT tests, RapidNIPT is a screening test. RapidNIPT determines whether diagnostic tests with serious risks are needed. Thus, it prevents the mother and her baby from taking unnecessary risks.
1In which country is RapidNIPT performed?
RapidNIPT is the NIPT test belonging to Genoks Genetic Diseases Evaluation Center and is performed in the Central laboratories in Ankara, Turkey. Thanks to technology transfers and collaborations, Genoks does not need to send your sample abroad. So you don't have to worry about the security of your personal information. Genoks is licensed by the Ministry of Health of the Republic of Turkey.
2How reliable is the RapidNIPT® Test?
The reliability of the Rapid NIPT® Test is >99%.
3Is the RapidNIPT® Test affected by previous pregnancies?
Free fetal DNA in the maternal circulation is lost within 24 hours of birth. Therefore, RapidNIPT® Test is not affected by previous pregnancies.
4How should the RapidNIPT® Test result be interpreted?
The RapidNIPT® Test is a screening test, not a diagnostic test. The information developed by the doctor, which should be known about this guide, and the information to be observed about the family should be interpreted. Results to be obtained with low access results are submitted for review.
5Is the RapidNIPT® Test result reported in a signed form by the Medical Genetic Specialist?
RapidNIPT® Test result signed by Medical Genetic Specialist, biRapidNIPT® Test, unlike other NIPT tests, is in Turkish report format and can be given in a signed form by Medical Genetic Specialists. In such genetic tests, both the medical genetics physician must be able to sign and the T.C. According to the regulations of the Ministry of Health, a licensed Genetic Diseases Evaluation Center must be approved by the Provincial Health Directorate in order to obtain results from the institution. Genoks is licensed by the Ministry of Health. Is it reported as such?
6Can RapidNIPT® Test work abroad like other NIPT tests?
Yes, if the patient or physician ESPECIALLY request that the sample be studied abroad, RapidNIPT® Test can be studied abroad (in Illumina Laboratories) like other NIPT Tests.
1Is the sample to be sent for RapidNIPT® Test approved for transfer abroad?
Yes, Genoks, T.C. Since it is a Genetic Diseases Evaluation Center (GHDM) approved by the Ministry of Health, it has biological material transport approval. Any institution that does not have a laboratory, or even has a laboratory but does not have a GHDM license, does not have the permission to transport biological material abroad.
2After the RapidNIPT® Test analysis, if the patient, physician or institution wishes to receive a technical interpretation / genetic counseling, can this be provided?
Yes, Genoks, T.C. Since GHDM is approved by the Ministry of Health, it can offer pre- and post-test genetic counseling by Medical Genetic Specialists.
3What are the RapidNIPT® test acceptance criteria in vanishing twin syndrome?
RapidNIPT® Test can be applied only for single or twin pregnancies, and the disappearance of twins should occur before the 8th week of pregnancy and 8 weeks should be waited from this date for sample collection. (For example, RapidNIPT® Test sample collection should be at week 14 if the vanishing twin condition occurred at week 6.)
4What are our advantages over other NIPT Tests?
• It is a licensed Genetic Diseases Evaluation Center operating the NIPT test in Turkey.
• It is a test that can look at 70 different parameters at the same time.
• One price is valid for all parameters. • Highly reliable results are obtained.
• Free genetic counseling is available.
5In which cases RapidNIPT® test fee is refunded?
If the expectant mother whose RapidNIPT® Test is studied cannot be reported as a result of the test (as a result of not finding enough fetal DNA), a blood sample is requested for the second time. If sufficient fetal DNA is not found in the second study, the fee will be refunded.