Book SMA Gene - SMN Microdeletion - PNDT Test

The SMA (Spinal Muscular Atrophy) Gene - SMN Microdeletion - PNDT test is a prenatal diagnostic test (PNDT) designed to identify deletions in the SMN1 gene associated with Spinal Muscular Atrophy (SMA), a genetic disorder characterized by muscle weakness and atrophy. PNDT refers to testing done during pregnancy.

Test Name SMA (Spinal Muscular Atrophy) Gene – SMN Microdeletion - PNDT
Sample Type Amniotic Fluid/Chorionic Villus Sampling
Preparations Required No special preparation is required for this test.
Report Time 11 Days
Price in Hyderabad ₹ 7600

Why is the SMA Gene – SMN Microdeletion - PNDT test done?

This test is done to determine if an unborn baby is at risk of developing SMA, especially when there is a family history of the condition.

Is fasting required before this test?

No, fasting is not necessary before the SMA Gene – SMN Microdeletion - PNDT test.

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What does the SMA Gene – SMN Microdeletion - PNDT test measure?

The test identifies deletions in the SMN1 gene, which are responsible for causing SMA.

How often should this test be done?

This is usually a one-time test, performed during pregnancy when there is a known risk of SMA.

What are the normal values for the SMA Gene – SMN Microdeletion - PNDT test?

A normal result would typically show two copies of the SMN1 gene. However, results should always be interpreted by a genetic specialist.

What precautions should be taken before and after the SMA Gene – SMN Microdeletion - PNDT test?

There are no specific precautions for this test. However, considering its implications, genetic counseling is recommended before and after the test.

Are there modifiable factors affecting the test results?

No. Genetic mutations or deletions are inherited and cannot be altered.

What non-modifiable factors can affect the test results?

The test results are entirely based on the genetic makeup of the fetus, which is determined at conception and remains constant throughout life.

If my test results are abnormal, who should I consult?

Abnormal results should be discussed with a geneticist or a specialist in maternal-fetal medicine. These professionals can provide appropriate guidance and management options.

Does the SMA Gene – SMN Microdeletion - PNDT test pose any risks?

The sample collection for this test involves invasive procedures like amniocentesis or chorionic villus sampling which carry risks such as miscarriage, infection, or bleeding. It's important to discuss these risks with your doctor.

Can certain medical conditions affect the test results?

No, other medical conditions do not impact the results of this genetic test.

Can medications affect the test results?

No, medications do not influence the results of this genetic test.

What does a positive result mean in a SMA Gene – SMN Microdeletion - PNDT test?

A positive result means that the fetus has a deletion in the SMN1 gene, indicating a high risk of developing SMA.

Can I take steps to improve my test results?

No, genetic variations cannot be changed. However, understanding the results can help in planning for the future management of the child's health.

If my results are abnormal, what treatment options are available?

While there is no cure for SMA, early diagnosis allows for early initiation of supportive care and interventions, which can improve the child's quality of life.

Are certain individuals more likely to have positive SMA Gene – SMN Microdeletion - PNDT test results?

Yes, if both parents are carriers of the SMN1 deletion, the unborn baby has a 25% chance of having SMA.

How should I prepare for the SMA Gene – SMN Microdeletion - PNDT test?

No specific preparation is needed. However, consider genetic counseling before and after the test to understand its implications.

What does it mean if my SMA Gene – SMN Microdeletion - PNDT test results are consistently positive?

A consistently positive result indicates a high risk of the baby developing SMA.

How accurate is the SMA Gene – SMN Microdeletion - PNDT test?

This test is highly accurate but should always be interpreted alongside clinical and familial data.

What other tests might my doctor order along with the SMA Gene – SMN Microdeletion - PNDT test?

Your doctor may order other prenatal tests to assess the overall health of the fetus.

The SMA Gene – SMN Microdeletion - PNDT test can guide decision-making during pregnancy and help prepare for the future. It's important to have open discussions with your doctor and understand all implications before proceeding with the test.

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