Upgraded CGT

Upgraded CGT: Carrier Genetic Test

A universal approach to understanding reproductive risk

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Overview

Upgraded CGT
Benefits
Indications

What is Upgraded CGT test?

The Upgraded Carrier Genetic Test (CGT) uses Clinical Exome Sequencing (CES) to identify carrier status in prospective parents for clinically relevant autosomal recessive and X-linked genetic conditions that may be transmitted to offspring.
Upgraded CGT analyses a broad panel of genes associated with conditions such as Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA) and Fragile X Syndrome, supporting clinically focused carrier screening and preconception risk detection.

Our New Universal approach to expanded carrier screening using Clinical Exome Sequencing

CGT Exome

Premium expanded panel for a comprehensive analysis with maximum detection.

CGT Plus

Expanded panel aligned with clinical recommendations.

CGT Bank

Optimised for donor screening and reuse of genetic data for universal matching.

More information about genes and mutations

More genes analysed provides higher probability of identifying carrier status

Expanded panels increase the likelihood of detecting relevant genetic risk and improve matching accuracy between partners or donors.

AR: autosomal recessive; XL: X-linked.
X-linked genes are reported for female samples only.
*Estimated that <5% of CGT Sync requests will require WES instead of CES; for CGT Mirror, this will vary depending on panel
Genes CFTR, SMN1, HBB, HBA1/2, GJB2, CYP21A2 – general EU population

Matching

Why testing both partners matters

Carrier screening is most informative when both partners are tested. If both carry the same condition, there is an increased potential risk to their future child
Our approach supports efficient matching between partners or between individuals using donors

The test is prescribed by the doctor
A sample of either blood or saliva is collected
DNA is analysed using advanced sequencing technology
Results are reported to support your reproductive decisions

Why use our Upgraded CGT?

Clinically validated carrier screening for reproductive risk assessment
Broad gene coverage to maximise detection of relevant genetic conditions
Enables testing before pregnancy, when more reproductive options are available
Supports partner and donor matching for informed reproductive decisions
Flexible testing options adapted to different clinical scenarios
Data can be reused for future matching or additional analysis
Genetic counselling support available when needed

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.

Documentation

CGT Specialists' documents

Relevant related studies:

The development of the CGT panel and the concept of comprehensive carrier screening was published in a paper by Martin et al, 2015 (Fertil Steril. 2015 Nov; 104(5):1286-93).

An analysis of preconception carrier screening and genetic matching with donor gametes was presented in an abstract by Egea et al, 2016 (Fertil Steril. 2016 Oct; e329).

Results discussing the use of carrier screening to predict the risk of disorders in the Middle-Eastern population was published as an abstract by Martin et al, 2018 (Reproductive Biomedicine Online 2018; e10)