Single Gene Sequencing Test | Lahalak Platform
Comprehensive genetic analysis to detect precise mutations and structural changes in a specific gene, providing a definitive diagnosis for rare genetic diseases with extreme accuracy.
Scientific name: Single Gene Sequencing (Del/Dup) Test
A comprehensive molecular genetic analysis consists of two main parts: Whole gene sequencing (Sanger Sequencing or NGS): to identify changes in the nitrogenous base sequence (point mutations, translocations, substitutions) in all coding and ligand regions of the target gene. Deletion/duplication analysis (MLPA, qPCR, or aCGH): to detect structura...
Service type
Laboratory test (Genetic)
Duration
10-15 minutes
Fasting
Fasting is not required
Included Services
- Whole gene sequencing with single-gene deletion/duplication analysis
- Specialized genetic consultation before and after testing to interpret the results and their impact
- Personal support services from Lahalak
Medical Service Information
Conditions & Notices
- A whole blood sample (EDTA) is required from the person to be tested, and sometimes from the parents, to confirm the heritability of the mutation.
- The request for testing must be accompanied by genetic counseling and a detailed explanation of the suspected gene based on the clinical diagnosis.
- Bring your complete family medical history and any previous genetic reports.
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