Upgraded CGT: Carrier Genetic Test

Who should use Upgraded CGT test?

• Couples planning a pregnancy who want to understand genetic risks before conceiving.
• Individuals or couples undergoing fertility treatment (IVF/ART).
• Patients considering donor sperm or egg, where genetic matching is important.

Most carriers have no symptoms and no known family history. Testing before pregnancy provides more reproductive options and greater flexibility in decision-making.

Test scope and specifications

• The test analyses a curated panel of genes associated with autosomal recessive and X-linked conditions relevant for reproductive risk.
• Gene content is based on current scientific and clinical knowledge and may evolve over time.
• Not all genes are analysed for all variant types (e.g., some genes may include SNVs/indels but not CNVs).

Analytical performance

The Upgraded CGT is based on next-generation sequencing using Clinical Exome sequencing (CES) approach, supported by validated bioinformatic pipelines. Analytical performance varies depending on variant type and genomic context.

• Single nucleotide variants (SNVs): Sensitivity > 99.5% and Specificity >99.9%
• Insertions and deletions (Indels): Sensitivity > 93.5% and Specificity >99.9%
• Copy number variants (CNV): 82% for small events (1-2 exons); 98% for multi-exon events

Test limitations

• Upgraded CGT is performed using Clinical Exome Sequencing (CES). Additional testing is performed where required.
• The sensitivity if the test is typically at 98% (>99% for most common variant types).
• We analyse genes on the list available at https://cgt-panels.igenomix.eu/
• The method is based on analysis by massive parallel sequencing and bioinformatics, studying the exons of the genes included on our gene list. This includes adjacent intronic regions before or after position +5 and -5.
• Copy Number Variations (CNVs) affecting clinically relevant gene deletions and duplications are analysed; however, not all structural variants may be detected.
• Germ mosaics (mutations only present in gametes) are not detected by this analysis because the DNA material studied is obtained from a blood/saliva sample.
• A negative result for the genes indicated does not exclude the possibility that a de novo mutation may appear in the offspring.