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Genetic Solutions > CGT

CGT: Carrier Genetic Test

Determines the risk of having a child with a genetic disease

  • Technical Overview
  • Documentation
  • Scientific evidence
  • I’m not a health specialist

Inherited disorders represent 20% of the causes of infant mortality in developed countries.

Sensitivity of 98%

Different CGT options available: CGT 600, CGT 250 and CGT one

Test results in 25 working days.

Are you interested?

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Or Email us at info.uk@igenomix.com
Overview
  • CGT
  • Benefits
  • Indications
  • Test limitations

What is CGT

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.

What CGT test options are available?

CGT 600

Uses NGS to analyse 6,600 pathogenic mutations across 547 genes linked to more than 600 genetic disorders. It is the most complete panel currently available.

CGT 250

Uses NGS to analyse 3,500 pathogenic mutations across 250 genes associated with the most prevalent diseases.

CGT ONE

Recommended in cases where the person has a family history and believes they carry a mutation in a specific gene. CGT One uses NGS to sequence the entire gene or a panel of genes linked to the disease in order to locate the existing mutations.

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.

Why use CGT test?

Is a clinically validated genetic screening test based on Next-Generation Sequencing (NGS).
Our different CGT options, tailored to each patient’s needs, make it the most complete test available.

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

Download

Brochure

Download
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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