GeniqueScreen®

What it covers

Carrier screening for inherited genetic conditions and hereditary cancer risk assessment.

What you get

Family-planning insights and, where relevant, a proactive understanding of inherited genetic conditions and hereditary cancer risk.

Who it's for

Couples planning a family and anyone wanting to understand inherited risk.

From sample to report

Analysed using GSA, WES or WGS in an accredited lab, with reports reviewed and explained by a certified genetic counsellor before release.

What the carrier panel tests

Carrier screening is a fixed-content test rather than a search. The panel is defined in advance, so the report tells you which of those conditions you carry and, just as usefully, which you do not.

• Panel content: 12,125 variants annotated Pathogenic or Likely Pathogenic, drawn from 1,465 genes.
• Method: genotyping on a custom Illumina Infinium microarray, with a detection rate above 99% for the variants on the panel.
• Confirmation: any variant reported is recommended for Sanger sequencing before it is acted on, to rule out a false positive.
• Limits: the panel covers the variants it lists and no others, so a clear result narrows inherited risk rather than removing it.

What the hereditary cancer panel tests

The cancer panel is the second half of GeniqueScreen® and is built the same way: a defined variant set, reported against a fixed list of conditions.

• Panel content: variants annotated Pathogenic or Likely Pathogenic across 97 genes associated with 46 diseases.
• Categories covered: breast and ovarian, colon, lung, prostate, pancreas, kidney, renal, thyroid, oesophagus, eye and skin cancers, alongside a group of cancer-related syndromes.
• Method: an array-based test covering a fixed set of variants, so a clear result speaks to the panel rather than to every possible cause.
• When it is not the right test: where there is a strong family history, or a sign of disease already present, the report directs the reader to further diagnostic testing rather than letting a clear screen stand as reassurance.

What a couple gets back

The carrier report is built around a reproductive decision, so it reads as a pair rather than as one individual.

• Both partners in one report: results sit side by side, with the partner column marked untested until the second sample is run.
• Reproductive risk as a figure: each positive finding carries the chance of an affected child, modelled on a pairing with an untested partner of the same ethnic group.
• The condition explained: inheritance pattern, the variant in standard HGVS notation, and a plain-language description of what the condition is and how it presents.
• Annexures: the full list of genes, variants and conditions tested is printed with every report, so the negative half of the result is auditable too.
• Counsellor review: every report is reviewed by a certified genetic counsellor before release, and onward carrier testing of a partner or of blood relatives is raised where a finding warrants it.