Genetic Solutions > CGT

CGT: Carrier Genetic Test

Determines the risk of having a child with a genetic disease

Overview

CGT
Benefits
Indications

What is CGT test?

CGT is an advanced carrier genetic test, which determines whether a couple are carriers of genetic mutations that could be transmitted to their children.
CGT uses Next-Generation Sequencing (NGS) to analyse a wide panel of disorders including as Cystic Fibrosis, Spinal Muscular Atrophy, Fragile-X Syndrome.

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

CGT Plus

Examines a larger list of genes associated with over 500 genetic conditions. This panel-based test is recommended when both individuals in a reproductive couple are seeking CGT to find out if they might be carriers of the same genetic condition(s), or when individuals are looking to donate eggs/sperm.

CGT Mirror

A test that facilitates “mirroring” a carrier screening test performed by a different genetic testing laboratory to ensure that the two panels include the same genes. Panels can vary between laboratories and over time. CGT Mirror can be considered when one member of the reproductive couple has already had carrier screening and the other member wishes to have a similar panel of genes tested.

CGT Sequential

May be considered when one individual in a reproductive couple (one partner or a sperm/egg donor) is a known carrier of one or more autosomal recessive genetic conditions. CGT Sequential can be ordered for the reproductive partner and includes analysis of the gene(s) of interest. The optional analysis of X-linked conditions is available for biologically female patients.

More information about genes and mutations

Why use our CS Exome based?

Is a clinically validated genetic screening test based on Next-Generation Sequencing (NGS).
Allows for testing of all known recessive conditions, increasing the overall detection rate and minimizing the global residual risk.
Maximizes IVF applications, matching possible with all genetic lab tests in the market.
Our different CGT options, tailored to each patient’s needs, make it the most complete test available.
Any upgrade possible at a later date if required.
Genetic Counselling
Exome sequencing offers added value for a future analysis of a given patient providing analytical possibilities in an adverse event of a newborn with a genetic condition.

Who should use CGT test?

Couples who plan on forming a family and want to know the risk of transmitting hereditary disorders to their children
Patients planning an assisted reproduction treatment
Patients planning a treatment with donor sperm or eggs

Most carriers of genetic mutations don’t have a family history of these disorders.

Test limitations

The sensitivity of the test is 98%.
We only analyze genes on the list available at www.cgt.igenomix.com, reporting results based on knowledge current at the time of testing. Therefore, only genes included in this list will be detected.
The method is based on analysis by massive parallel sequencing and bioinformatics, studying all the exons of the genes included on our gene list. This includes adjacent intronic regions before or after position +5 and -5. Variants located outside the gene regions studied, such as gene-expression regulatory regions or intronic regions before or after position +5 and -5 are not detected.
No inversions, deletions, or duplications over 20 nucleotides long that are not referred to in the list available at www.cgt.igenomix.com are studied.
Germ mosaics (mutations only present in gametes) are not detected by this analysis because the DNA material studied is obtained from a blood 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

Clinical Sheets

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Brochure

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Sample Collection Instructions

Click Here

Scientific evidence

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)

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