SMA (SMN1 gene, exon 7)

At IntroLab Belgrade, we offer molecular testing for SMA (SMN1 gene, exon 7) to accurately assess carrier status for spinal muscular atrophy. This analysis identifies deletion of exon 7 in the SMN1 gene, the genetic change responsible for most cases of SMA. A person can be entirely healthy and have no symptoms while still carrying a mutation that may be passed on to their child. That is why carrier screening represents an important step in informed and responsible family planning.

What is Spinal Muscular Atrophy?

Spinal muscular atrophy is a hereditary neuromuscular disorder caused by changes in the SMN1 gene. This gene is essential for producing a protein that enables the normal function of motor neurons — the nerve cells responsible for controlling muscle movement.

The condition is inherited in an autosomal recessive pattern, meaning a child can develop the disease only if both parents carry the mutation.

• If both partners are carriers:
• There is a 25% chance the child will be affected
• A 50% chance the child will be a carrier
• A 25% chance the child will not inherit the mutation

What Is Included in the SMA (SMN1 gene, exon 7) Analysis

This test involves:

• Identifying deletion of exon 7 in the SMN1 gene
• Measuring the number of SMN1 gene copies
• Determining carrier status through molecular analysis

Since deletion of exon 7 accounts for over 95% of spinal muscular atrophy cases, this test serves as a dependable tool for assessing genetic risk.

Interpretation of Results

The test result indicates the number of SMN1 gene copies:

• 0 copies of SMN1 – confirms the presence of spinal muscular atrophy
• 1 copy of SMN1 – the individual is a carrier of the mutation
• 2 copies of SMN1 – the individual is most likely not a carrier

If carrier status is confirmed, testing of the partner and genetic counseling are recommended to assess the risk for future offspring.

Who Is the Test Recommended For

The SMA (SMN1 gene, exon 7) analysis is particularly recommended for:

• Couples planning a pregnancy
• Individuals with a family history of neuromuscular disorders
• Partners of pregnant individuals
• Anyone who wishes to assess their genetic risk

Timely information supports informed decision-making and safer family planning.

Schedule Your SMA (SMN1 gene, exon 7) Test

At IntroLab in Belgrade, the SMA (SMN1 gene, exon 7) test is performed using advanced molecular techniques, ensuring a high level of accuracy and professional support. Genetic evaluation is an important step toward responsible and informed family planning. Schedule your appointment today and learn your genetic status.