Test catalog
Familial mutation test
Targeted genetic test to search for a previously defined familial variant, by PCR amplification of the target region and next-generation sequencing (NGS).
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- 30 calendar days, after order confirmation
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for Familial mutation test
Method, scope, requirements and limitations
Targeted genetic test to search for a previously defined familial variant, by PCR amplification of the target region and next-generation sequencing (NGS).
- Applications
- Rare and hereditary diseases, Family analysis
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- 30 calendar days, after order confirmation
- Methodology
- PCR amplification of the target region containing the variant under investigation, followed by next-generation sequencing (NGS). Reads are aligned to the GRCh38/hg38 reference genome and assessed specifically for the presence or absence of the variant under investigation.
- Analytical scope
- Target region of the familial variant stated in the order.
- Medical order
- Required
Requirements
A medical order and sufficient clinical information to guide the analysis.
Limitations
The test is directed at the target region of the variants under investigation. Changes outside the amplified region, complex structural variants, large deletions or duplications, low-level mosaicism, epigenetic changes and variants in regions not covered by the assay design are not assessed. Pseudogenes, highly homologous regions and polymorphisms at primer binding sites may affect detection.
Additional information
A negative result reduces the probability that the variant under investigation is present in the analyzed sample, but does not exclude other genetic or clinical causes of the condition under investigation. The result must be interpreted together with the clinical indication, family history and the technical limitations of the method, and genetic counseling is recommended to discuss it.
