SMA Gene – SMN Microdeletion

This test is typically performed once in a lifetime unless there is a requirement to validate the results or under special circumstances.

A normal result would typically show two copies of the SMN1 gene. However, interpretation of genetic tests can be complex and should always be done by a genetics expert.

There are no specific precautions for this test. However, as it is a genetic test, it might be helpful to seek genetic counseling before and after the test to understand the potential implications of the results.

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

The results are purely based on your genetic makeup, which is determined at conception and remains constant throughout life.

If your test results indicate a microdeletion in the SMN1 gene, you should consult a geneticist or a neurologist for further evaluation and management.

The test involves a standard blood draw, which carries minimal risks such as slight pain, bruising, or infection at the puncture site.

No, other medical conditions don't affect the results of a genetic test.

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

A positive result means there's a deletion in the SMN1 gene, suggesting a diagnosis of Spinal Muscular Atrophy or carrier status.

No, genetic variations cannot be changed. However, appropriate management can improve the symptoms and quality of life in individuals with Spinal Muscular Atrophy.

While there's no cure for Spinal Muscular Atrophy, treatment focuses on managing symptoms and improving quality of life. This can include physical therapy, respiratory care, and medications to manage symptoms.

Yes, individuals with a family history of Spinal Muscular Atrophy are at a higher risk of carrying a deletion in the SMN1 gene.

No specific preparation is needed. However, it may be beneficial to seek genetic counseling before and after the test to fully understand the implications.

A consistently positive result indicates a deletion in the SMN1 gene, confirming a diagnosis of Spinal Muscular Atrophy or carrier status.

The SMA Gene – SMN Microdeletion test is highly accurate but should be interpreted in conjunction with clinical findings and family history.

Your doctor may order other genetic tests, electromyography (EMG), or nerve conduction studies to further investigate the cause of muscle weakness.

Understanding the SMA Gene – SMN Microdeletion test can lead to informed decisions about your health or family planning. Ensure to discuss any questions or concerns with your doctor, who can guide you on the journey to better health.