Test catalog
SMN1 gene sequencing
Sequencing of the SMN1 gene using targeted exome-based analysis, for the investigation of spinal muscular atrophy.
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- 20 calendar days, after order confirmation
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for SMN1 gene sequencing
Method, scope, requirements and limitations
Sequencing of the SMN1 gene using targeted exome-based analysis, for the investigation of spinal muscular atrophy.
- Applications
- Rare and hereditary diseases
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- 20 calendar days, after order confirmation
- Methodology
- Next-generation sequencing (NGS) of the exome on the MGI platform, with analysis targeted to the requested gene. Variant classification follows ACMG criteria and ClinGen updates.
- Analytical scope
- Small variants in the evaluable coding regions of the SMN1 gene and near splice junctions.
- Genes analyzed
-
1 genes analyzed.
See full content
SMN1
- Medical order
- Required
Requirements
A medical order and sufficient clinical information to guide the analysis.
Limitations
The result depends on sample quality, achieved coverage and the method’s limitations. Variants larger than 20 bp and smaller than one exon may be detected with reduced sensitivity, and CNVs of one or two exons are outside the scope. It does not primarily target deep intronic, promoter or regulatory regions. Repeats, rearrangements, methylation, high homology, and low coverage may require another method. The high homology between SMN1 and SMN2 limits analysis by sequencing. SMN1 deletion, the main cause of spinal muscular atrophy, requires copy number analysis, available in a specific MLPA test.
Additional information
A negative result does not exclude a genetic condition. Interpretation should take clinical information and, when indicated, genetic counseling into account.
