Single-variant targeted testing
Do you need to confirm one specific mutation? We sequence exactly that variant by bidirectional Sanger and deliver a report with interpretation validated by the responsible physician. €132 per variant · 15 days.
One variant, one answer
When the question is not “which variants are there?” but “is this specific variant present?”, a full panel is overkill. Here you pay for what is actually analysed.
Confirming a candidate
An exome, a genome or a panel has identified a candidate variant and you need confirmation with an orthogonal method before reporting or continuing the investigation.
Segregation testing
Check whether the variant segregates with the disease in the family: one targeted assay per relative, each with its own report.
Follow-up of a known case
Verification of a variant already described in the patient, in a previous report or in the family prognostic work-up.
An order without a full panel
You only care about one specific position of the DNA: this test analyses that position and nothing else, with a fixed turnaround and price.
From variant to report in 4 steps
1 · Send us the variant
Gene and HGVS notation, at DNA and/or protein level (e.g. DES NM_001927.4:c.1345A>G). If you do not have the transcript reference, we locate it and confirm it with you before starting.
2 · Sample and consent
Peripheral blood in a K2 EDTA tube (other samples on request). Kit, labels and collection coordinated with your centre, informed consent included.
3 · Bidirectional Sanger sequencing
Amplification of the region containing the variant and reading of both strands, with internal quality control and technical review before interpretation.
4 · Validated report
Report within 15 days of sample receipt: result, interpretation according to inheritance and genotype, variant context, references and limitations, signed by the responsible physician.
A report you can defend
Tailored interpretation
The text is composed according to the inheritance and genotype detected (dominant, recessive, X-linked, mitochondrial) and complemented with the specific context of the variant.
Cited evidence
ClinVar classification, ClinGen gene–disease validity, OMIM entries and primary articles referenced inside the report itself, with the date of consultation.
Declared limitations
The report states what the assay does not cover: only the requested variant, no detection of CNVs or large rearrangements, and an explanation of allele dropout.
Fixed, no surprises
Targeted test
Bidirectional Sanger + report
- Bidirectional sequencing of the region
- Report with interpretation and references
- Validation by the responsible physician
- 15 days from sample receipt
What this test does NOT do
Saying it clearly avoids wrong expectations:
- It does not analyse other variants. Only the requested position; it is not a panel or an exome and it does not rule out variants in other genes.
- It does not detect CNVs or large rearrangements. Duplications, deletions and structural variants are not assessed.
- It does not prove that “both alleles are reference”. A variant in a primer-binding site or the loss of one allele (allele dropout) can hide that allele; the report states this.
- It is not a prenatal or presymptomatic diagnostic test unless there is a clinical indication and previous genetic counselling.
Ask for your targeted test
Tell us the gene and the variant (HGVS) and we confirm feasibility, quote and kit dispatch. You can also contact us directly.
Frequently asked questions
Which variants can be tested?
Any single nucleotide variant or small indel described in any gene, in HGVS notation (c. or g., and p. if you know it). If you only have the nucleotide change, we locate the transcript reference and confirm it with you before starting.
How much does it cost and how long does it take?
€132 per variant and 15 days from sample receipt at the laboratory. The quote is confirmed before the kit is sent.
Which sample is required?
Peripheral blood in a K2 EDTA tube. For other materials (extracted DNA, saliva, tissue) please check first: viability depends on the quality and quantity of the material.
Does it replace a panel or an exome?
No. This test answers one concrete question (“is this variant present?”) and does not rule out variants in other genes or structural variants. For a broad diagnostic work-up see our targeted panels or the clinical exome.
Can it be used to test relatives?
Yes: it is the standard assay for segregation studies. Each relative requires their own sample and their own report.
What exactly do I receive?
A PDF report with the result, the interpretation according to inheritance and genotype, the variant context with cited sources, the limitations of the assay and validation by the responsible physician. You can see a sample report.
Do you have a specific variant in mind?
Gene + HGVS and you are done: quote confirmed, kit sent, report in 15 days.