FISH for Aneuploidy - 2 Markers Chr 13, 21- Price, Normal Range | Sprint Diagnostics Hyderabad

Patient Preparing : No specific preparations are required for this test. However, pregnant women should follow their doctor’s instructions before undergoing an amniocentesis or chorionic villus sampling procedure.

₹ 4500


FISH, standing for Fluorescence In Situ Hybridization, for aneuploidy involving 2 markers, chromosomes 13 and 21, is a prenatal test used to detect chromosomal abnormalities in unborn babies. Chromosomal abnormalities such as Trisomy 13 (Patau syndrome) and Trisomy 21 (Down syndrome) are genetic disorders in which an extra chromosome is present. Patau syndrome is associated with severe intellectual disability and physical abnormalities, while Down syndrome is one of the most common chromosome abnormalities in humans. FISH is a molecular cytogenetic technique that uses fluorescent probes binding to only those parts of a nucleic acid sequence with a high degree of sequence complementarity. It is used to detect and localize the presence or absence of specific DNA sequences on chromosomes.

Test Name FISH for Aneuploidy - 2 Markers Chr 13, 21 (Prenatal)
Sample Type Amniotic fluid or chorionic villus
Preparations Required No specific preparations are required for this test. However, pregnant women should follow their doctor’s instructions before undergoing an amniocentesis or chorionic villus sampling procedure.
Report Time 5 days
Price in Hyderabad ₹ 4500

What is the FISH for Aneuploidy - 2 Markers Chr 13, 21 (Prenatal) test?

The test uses fluorescent probes to identify if there are an abnormal number of chromosomes 13 and 21 in the cells of an unborn baby. This is important for diagnosing conditions such as Down syndrome and Patau syndrome.

How is the test performed?

This test is performed using a sample of amniotic fluid or tissue from the placenta, obtained through amniocentesis or chorionic villus sampling. Fluorescent probes are applied to the sample, and under a special microscope, the presence or absence of extra chromosomes can be detected.

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Why is this test important?

This test is crucial for early detection of certain chromosomal abnormalities, which can help parents and doctors make informed decisions regarding the pregnancy and prepare for any special care needed after birth.

What do the results of this test mean?

If an extra copy of chromosome 13 or 21 is detected, it suggests the fetus has Trisomy 13 or Trisomy 21, respectively. Normal results indicate the typical number of these chromosomes.

Are there any risks associated with this test?

The test itself has no specific risks, but the procedures of amniocentesis or chorionic villus sampling used to obtain the sample carry a small risk of miscarriage or infection.

How are the results of this test used in prenatal care?

Results can be used to counsel parents on the potential outcomes and management options for the pregnancy. In some cases, it may influence the decision-making regarding continuation of the pregnancy.

Who should consider having this test?

Pregnant women who are at increased risk for having a child with chromosomal abnormalities, either due to maternal age, family history, or abnormal screening results, should consider this test.

Can the results of this test be used to diagnose Down syndrome or Patau syndrome?

Yes, the presence of an extra chromosome 21 is diagnostic of Down syndrome, while an extra chromosome 13 is diagnostic of Patau syndrome.

What is the difference between FISH and karyotyping?

While both tests look for chromosomal abnormalities, FISH is faster and can target specific chromosomes, while karyotyping provides a broader view of all chromosomes but takes longer to obtain results.

Can this test detect other chromosomal abnormalities?

This specific test targets only chromosomes 13 and 21. Other FISH tests or karyotyping can be used to detect different chromosomal abnormalities.

How reliable is the FISH for Aneuploidy test?

FISH is highly reliable in detecting targeted chromosomal abnormalities. However, it might not detect other untargeted chromosomal changes.

What are the limitations of this test?

FISH can only detect abnormalities in chromosomes that are being specifically tested for, and it doesn't provide information on the structure of the chromosomes.

How should I prepare for the test?

No special preparation is needed, but it’s important to follow your doctor’s instructions regarding amniocentesis or chorionic villus sampling procedure.

What factors can affect the results of this test?

Technical factors such as the quality of the sample can affect the results. Additionally, maternal cell contamination can sometimes cause misleading results.

What should I do if the test results are abnormal?

If the results are abnormal, it is important to consult with your doctor to understand the implications and discuss options for managing the pregnancy.

Identifying chromosomal abnormalities before birth can be a critical aspect of prenatal care. The FISH for Aneuploidy - 2 Markers Chr 13, 21 (Prenatal) test provides valuable information regarding the genetic health of an unborn baby. By targeting specific chromosomes, this test plays a crucial role in early diagnosis and intervention planning for conditions like Down syndrome and Patau syndrome. Understanding the importance and capabilities of this test can help expectant parents make informed decisions for the wellbeing of their family.

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