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Our Services > CGT

CGT: Carrier Genetic Test

Genetic disorders can’t be cured, but they can be prevented

  • Overview
  • Features
  • How does it Work?
  • I’m a health specialist

82% of individuals
are carriers of at least one condition.

Every person
has an average of 2 genetic mutations.

5% of couples
carry the same mutation.

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

Overview

What are genetic diseases?

Genetic diseases are caused by mutations – changes to our genes. Mutations associated with recessive genetic disease can be present in DNA without affecting the individual – they are a carrier of the condition. 82% of individuals are carriers of at least one condition.

It was previously the case that couples would only discover that they carry the same disorder when they had an affected child. Now, we are able to analyse the parents’ DNA to detect these conditions before they have a child. These couples can then consider embryo testing, using donor sperm/eggs, adoption, and other options.

CGT determines whether you and your partner or donor are carriers of single-gene recessive conditions: if you both carry the same mutation, the probability of having a sick child is 25%.

(*) Kingsmore S. PLOS Currents Evidence on Genomic Tests. 2012 May 2. Edition 1. doi: 10.1371/4f9877ab8ffa9.

Is CGT for you?

This test is recommended if:

  • You want to know the risk of transmitting disorders to your future children, regardless of your reproductive plans
  • You’re going to start assisted reproduction treatment
  • You’re staring a treatment involving a sperm or egg donor

What is CGT?

 

CGT is an important genetic test when planning a family, because it helps to determine the risk of having a child with a genetic disease. The test tells us whether the parents carry one or more recessive genetic mutations and whether they co-carry the same mutation.

Features
  • Benefits
  • Indications

Should I be concerned about these disorders?

According to data from the World Health Organization (WHO)1, the global prevalence of these illnesses is 10 in 1000 newborn infants. There are estimates that, taken together, indicate that these illnesses represent 20% of the causes of infant mortality in developed countries and that they are the reason for 18% of the interventions in paediatric hospitals2

(1) According to data from the World Health Organization (WHO) http://www.who.int/genomics/public/geneticdiseases/en/index2.html

(2) Kingsmore S. PLOS Currents Evidence on Genomic Tests. 2012 May 2. Edition 1. doi: 10.1371/4f9877ab8ffa9.

Is CGT for you?

CGT is recommended if:
  • You want to know the risk of transmitting possible disorders to your future children, regardless of your reproductive plans
  • You’re going to start assisted reproduction treatment
  • You’re staring a treatment involving a sperm or egg donor

CGT Options Available

Igenomix is able to offer three types of carrier genetic test, depending on your unique circumstances. These tests can be performed as couples’ tests, with both you and your partner undergoing CGT at the same time. We will then produce a combined report with clear genetic guidance.

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.

CGT 250

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

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

How does it work?

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