Test catalog
PTPN11 gene sequencing
Sequencing of the PTPN11 gene using targeted exome-based analysis, for the investigation of Noonan syndrome.
- 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 PTPN11 gene sequencing
Method, scope, requirements and limitations
Sequencing of the PTPN11 gene using targeted exome-based analysis, for the investigation of Noonan syndrome.
- 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
- Evaluable coding regions and splice boundaries of the analyzed gene, with exome coverage: single nucleotide variants (SNVs), small deletions and duplications of up to 20 bp, and CNVs spanning three or more exons.
- Genes analyzed
-
1 genes analyzed.
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PTPN11
- 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.
Additional information
A negative result does not exclude a genetic condition. Interpretation should take clinical information and, when indicated, genetic counseling into account.
