Mutation-Specific Analysis

Sanger sequencing-based mutation analysis is a highly specific molecular test used to confirm known pathogenic or familial genetic variants in an individual. This method is ideal for targeted testing, where a particular mutation is already identified in a family member or suspected based on clinical findings. As the gold standard for sequence validation, Sanger sequencing provides accurate base-level resolution, making it essential for confirmatory testing in clinical genetics.

Confirmation of a previously identified mutation in a family member (cascade testing)
Follow-up validation of variants detected by exome or panel-based NGS
Carrier testing for known familial mutations
Mutation analysis in conditions like thalassemia, cystic fibrosis, BRCA mutations, SMA, and others
Diagnostic evaluation when a specific mutation is strongly suspected based on phenotype or clinical history

Built for speed. Trusted by clinicians. Reassuring for families.

Single Nucleotide Variants (SNVs)
Small insertions or deletions (indels)
Typically applied to hotspot regions, specific exons, or known familial mutation sites
Not suitable for large deletions/duplications, copy number changes, or deep intronic variants
Sanger sequencing is a targeted test and requires prior knowledge of the gene region or mutation of interest.

Postnatal Samples
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Peripheral Blood
- Volume: 3–5 ml
- Container: EDTA (purple-top) vacutainer
- Transport: Room temperature; deliver within 24 hours
- Important: Do not freeze or delay transport
Other Acceptable Samples (on request):
- DNA extracted from other clinical specimens (tissue, saliva, etc.) with proper documentation

Pre-test requirement: Detailed clinical history and reference mutation details (if familial)

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Highly Accurate:

Gold-standard method with precise base-pair resolution
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Ideal for Confirmation:

Used to verify NGS findings or familial mutations
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Cost-Effective for Targeted Use:

Suitable for single-gene or exon-level testing
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Supports Genetic Counseling:

Enables cascade testing and informed reproductive decisions
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Widely Accepted in Clinical Practice:

Applicable in carrier detection, diagnostic workups, and treatment planning

Precision for known mutations. Confidence in confirmation.

Labassure’s mutation-specific analysis using Sanger sequencing delivers gold-standard precision and clinical reliability—offering clarity, confirmation, and peace of mind. By targeting known genetic variants with unmatched accuracy, the test empowers individuals and families to make informed, genetics-guided decisions with confidence.

Need Help Deciding?

If you're unsure whether you should consider MSA, our team of certified genetic counselors is here to guide you.

Mutation-Specific Testing

Precision for known mutations. Confidence in confirmation.

Need Help Deciding?

Corporate

Test & Services

Mutation-Specific Testing

Precision for known mutations. Confidence in confirmation.

Need Help Deciding?

Sequencing for Variant Confirmation

Corporate

Test & Services