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    What Is a NIPT for All Chromosomes Test?

    Non-Invasive Prenatal Testing (NIPT) is a blood test performed during pregnancy to determine the likelihood of the baby having certain genetic conditions. Tiny fragments of the baby’s DNA, known as cell-free DNA (cfDNA), circulate in the mother's bloodstream and are derived from the placenta. NIPT analyses this cfDNA to detect chromosomal abnormalities in the foetus without the need for invasive procedures like amniocentesis (testing the amniotic fluid) or chorionic villus sampling (CVS – testing placental tissue). It is particularly useful in identifying disorders caused by missing or extra chromosomes.

    The primary conditions screened for by NIPT include:

    • Trisomies : An extra chromosome, such as Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).

    • Sex chromosome aneuploidies : Abnormal numbers of X or Y chromosomes, such as Turner syndrome, Klinefelter syndrome, and Triple X syndrome.

    • Microdeletions : Some NIPT panels can also detect microdeletions like 22q11.2.

    The advantage of NIPT over other genetic tests is that it is non-invasive and only requires a blood sample, unlike other chromosomal tests that are invasive. As a screening test, NIPT assesses the risk but does not confirm a diagnosis. If it suggests a high risk, further tests like amniocentesis or CVS may be necessary to confirm the results. For residents of Mumbai, the convenience of at-home NIPT testing, including sample collection and fast results, makes it a preferred choice.

    NIPT for All Chromosomes Test Parameters

    NIPT assesses two main parameters: chromosomal abnormalities (such as Trisomy 21 – Down syndrome, Trisomy 18, and Trisomy 13) and sex chromosome abnormalities (like Klinefelter syndrome, Turner syndrome, Triple X syndrome, and XYY syndrome).

    The test works by analysing cfDNA (small fragments of the baby’s DNA present in the mother’s blood) to detect genetic disorders. These fragments are derived from the placenta, which nourishes and oxygenates the baby.

    Typically, the test is conducted after the 10th week of pregnancy when sufficient foetal DNA is present in the mother’s bloodstream to ensure accurate results.

    While NIPT has a 99% accuracy rate for detecting Down syndrome, its accuracy is slightly lower for other conditions such as Trisomy 18 and Trisomy 13. Certain factors, including being a surrogate, carrying multiples, or maternal obesity, may impact the results.

    For accurate testing, the foetal fraction (the proportion of cfDNA from the placenta in the maternal blood) must be at least 4%. If the sample does not contain enough baby’s DNA, the test may yield inconclusive or incorrect results. This can happen if the test is performed too early, if there is an issue with the sample, or if the mother is overweight. Different methods of NIPT analyse cfDNA in distinct ways, with most counting all fragments to identify any extra or missing chromosomes.

    NIPT for All Chromosomes Test Preparation

    For accurate results, please follow these key guidelines before taking the NIPT test:

    • Prerequisites: There are no special requirements, such as fasting, before taking the NIPT test.

    • Optimal Time for Testing: The NIPT test can be done at any time of day. However, it is generally performed after the 10th week of pregnancy as foetal DNA levels may be insufficient before then.

    • Who Should Consider a NIPT Test? This test is recommended for pregnant individuals at a higher risk of having a child with chromosomal abnormalities. It is also available to all pregnant individuals.

    • Precautions Before the NIPT Test: No special precautions need to be taken before undergoing the NIPT test.

    Why Take the NIPT for All Chromosomes Test?

    NIPT is suggested for pregnant individuals who may be carrying a foetus at risk of genetic disorders, such as:

    • Pregnant individuals at all risk levels : Initially advised only for high-risk pregnancies, NIPT is now recommended for all expectant parents, regardless of risk level.

    • Parents with a history of genetic conditions : Those who have previously had a child with a chromosomal abnormality may choose NIPT to assess the likelihood of similar issues in their current pregnancy.

    • Individuals with abnormal ultrasound findings : If an ultrasound shows potential developmental concerns, NIPT can be used to assess the risk of certain genetic conditions.

    • Individuals with abnormal early screening results : If earlier prenatal screenings raise concerns, NIPT can provide more accurate insights into possible chromosomal abnormalities.

    • Expectant parents seeking a comprehensive genetic screening : As genetic testing technology progresses, NIPT can now detect additional genetic disorders, offering valuable early insights for prenatal care.

    NIPT can accurately detect common chromosomal conditions like Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13) with high accuracy (94-99%). It can also identify sex chromosome abnormalities such as Turner syndrome (missing X chromosome) and Klinefelter syndrome (additional X chromosome in males).

    FAQs on the NIPT for All Chromosomes Test in Mumbai

    The NIPT test in Mumbai is priced at ₹11000. The fee includes home sample collection within 60 minutes of booking. Test results will be available within 299 hours following sample collection.

    Yes, Orange Health Labs does provide doorstep sample collection for NIPT testing. After scheduling the test, a trained eMedic expert will come to your location within 60 minutes to collect the required sample.

    NIPT is a screening test for genetic disorders, including Down syndrome, Edwards syndrome, and Patau syndrome, as well as sex chromosome conditions like Klinefelter syndrome. It evaluates the risks of chromosomal abnormalities during pregnancy.

    Fasting is not required prior to undergoing the NIPT test.

    Follow these steps to schedule your NIPT test with Orange Health Labs:

    • Find the Test : Look up "NIPT test" and choose Orange Health Labs from the search results.

    • Confirm Appointment : Provide your details, select your location, and choose an appropriate time for sample collection.

    • Sample Collection : A trained eMedic will visit you to collect the blood sample.

    • Processing and Results : The sample will be analysed at our NABL-certified, ICMR-approved laboratory. Results will be sent to you via email or WhatsApp within 299 hours.

    The results of the NIPT are shown as a "Z score." A Z score within the specified range for each condition typically indicates a low risk. For instance, a Z score between -6 and 2.8 is considered low risk for Down syndrome.

    Reports for the test are usually ready within 299 hours of sample collection.

    This test's necessity and how often it should be taken depend on your specific health condition and your doctor's guidance.

    NIPT testing includes screening for conditions like trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome abnormalities, including Klinefelter syndrome, Turner syndrome, Triple X syndrome, and XYY syndrome.

    The NIPT test is accessible in various localities across Mumbai, including but not limited to Colaba, Dadar, Parel, Byculla, Bandra, Andheri, Juhu, Ghatkopar, Powai, Chembur, Vashi, Belapur, Santacruz, Khar, Versova, Lokhandwala, Goregaon, Borivali, Kandivali, Mulund, Bhandup, Nariman Point, Marine Drive, Malabar Hill, Churchgate, Worli, and Kurla.

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    References

    1. Cleveland Clinic. NIPT test (Noninvasive Prenatal Testing): What To Expect.  Available from:  https://my.clevelandclinic.org/health/diagnostics/21050-nipt-test
    2. Medline Plus. What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?: MedlinePlus Genetics  Available from:  https://medlineplus.gov/genetics/understanding/testing/nipt/
    3. Non-invasive Prenatal Screening or Testing (NIPS / NIPT).  Available from:  https://me.health.gov.il/en/parenting/planning-a-family/pregnancy-testing-and-monitoring/tests-during-pregnancy/nipt-test/
    4. Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions. Genes.  Available from:  https://www.mdpi.com/2073-4425/14/1/160