FISH for Chromosomes 13, 18, 21, X & Y- Price, Normal Range | Sprint Diagnostics Hyderabad

Patient Preparing : There are no specific patient preparations required for blood samples. For amniotic fluid samples, it is critical to follow the doctor's instructions regarding prenatal testing.

₹ 8000

Fluorescence In Situ Hybridization, known as FISH, is an advanced laboratory technique used to detect specific DNA sequences on chromosomes. In the context of chromosomes 13, 18, 21, X, and Y, FISH is primarily used in prenatal diagnosis to ascertain chromosomal abnormalities such as Down syndrome (Trisomy 21), Patau syndrome (Trisomy 13), Edwards syndrome (Trisomy 18), and sex chromosome- related conditions.

Knowing whether an unborn baby has a chromosomal abnormality is crucial as it allows for early intervention, better preparation, and informed decisions regarding the pregnancy.

Test Name FISH for Chromosomes 13, 18, 21, X & Y
Sample Type Blood
Preparations Required There are no specific patient preparations required for blood samples. For amniotic fluid samples, it is critical to follow the doctor's instructions regarding prenatal testing.
Report Time 5 days
Price in Hyderabad ₹ 8000

What does FISH for Chromosomes 13, 18, 21, X & Y entail?

FISH for these chromosomes is a diagnostic test that uses fluorescent probes to visualize and map the genetic material in an individual's cells. It is often used to detect abnormalities in chromosomes 13, 18, 21, X, and Y, which can be associated with various genetic disorders.

Why is this test important?

This test is important because it helps in detecting chromosomal abnormalities early, often during pregnancy. Early diagnosis can assist in making informed decisions regarding the management of the pregnancy and preparations for any special care that might be needed after birth.

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Who should consider getting this test?

Pregnant women, especially those with high-risk pregnancies, advanced maternal age, or a family history of chromosomal abnormalities, should consider this test. It can also be suggested by a doctor based on results from other screening tests.

How is the sample for this test collected?

In prenatal testing, the sample is usually collected from the amniotic fluid through amniocentesis. For postnatal or adult testing, a blood sample is collected from a vein in the arm.

What does it mean if there is an extra copy of chromosome 21?

An extra copy of chromosome 21 results in Down syndrome, also known as Trisomy 21. This condition is associated with intellectual disability, characteristic facial features, and, often, heart defects.

What is Edwards syndrome?

Edwards syndrome, or Trisomy 18, occurs when there is an extra copy of chromosome 18. It is a severe disorder characterized by multiple malformations and organ abnormalities and is often life-limiting.

What is Patau syndrome?

Patau syndrome, or Trisomy 13, is caused by an extra copy of chromosome 13. It is also a severe syndrome characterized by numerous structural abnormalities and a high neonatal mortality rate.

How do the X and Y chromosomes affect sex determination?

Typically, females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). This test can detect the presence of these chromosomes, confirming the biological sex of an unborn child and identifying conditions such as Turner syndrome or Klinefelter syndrome.

What are the risks associated with amniocentesis?

Amniocentesis carries a small risk of miscarriage. There may also be risks of infection or injury to the fetus, though these are extremely rare. It's important to discuss the risks with the doctor.

Can this test detect all genetic disorders?

No, this test is specific to the chromosomes it targets. While it can detect trisomies and sex chromosome abnormalities, it cannot detect other genetic disorders.

What are the options if a chromosomal abnormality is detected?

Options vary depending on the severity of the abnormality, gestational age, and personal choices. These can range from preparing for a child with special needs to considering the termination of pregnancy in severe cases.

How reliable is the FISH test?

FISH is highly reliable in detecting the number of specific chromosomes, but it does not provide information on structural abnormalities within the chromosomes.

What other tests might be recommended if abnormalities are found?

If abnormalities are found, further genetic testing, ultrasounds, and consultations with genetic counselors and specialists may be recommended.

Are there any factors that can affect the test results?

Test results can be affected by technical issues with the sample, maternal cell contamination in amniotic fluid, or mosaicism (when some cells have a different chromosomal content than others).

What kind of doctor should be consulted for interpretation and guidance regarding FISH test results?

It is advisable to consult a geneticist or a specialist in maternal-fetal medicine for proper interpretation and guidance regarding the FISH test results.

Understanding the genetic makeup of an unborn child is an invaluable tool for expecting parents. The FISH test for chromosomes 13, 18, 21, X, and Y provides critical insights into the chromosomal health of the fetus. This information empowers parents and doctors to make informed decisions and prepare for the future. It is essential to discuss any concerns and the implications of the test results with a specialist to fully understand the options and resources available.

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