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Medical professionals

 Study on 4,000 mutations associated with more than 600 genetic disorders

Before pregnancy, this genetic test can determine if a person is a carrier of genetic mutations that could be transmitted to their children.

lf both partners in a couple carry a mutation in the same gene,there is an increased risk of having an affected child.

lt evaluates disorders such as Cystic Fibrosis,Spinal Muscular Atrophy,Fragile-X Syndrome, Beta Thalassemia,Hereditary Non-Syndromic Sensorineural Hearing Loss, Retinitis Pigmentosa (blindness) and others.Mutation_Carriers 

1. What is a single gene disorder?

lt’s a hereditary disease caused by the presence of a mutation, or mutations, in a particular gene.
Single gene disorders can’t be cured, but they can be prevented.

2.What is the Carrier Screening Test for?

lt identifies couples in which both partners are carriers. In this way it prevents serious genetic disorders, many of which are fatal,without therapy.

A positive result means the presence of one or more mutations. In this case the test should be carried out on the other member of the couple.

lf both partners carry a mutation in the same gene.there is a high risk of them having sick children. In these cases there are options for conceiving healthy children, like the Preimplantation Genetic Diagnosis or gamete donation. lt’s also possible to conceive naturally and use Prenatal Diagnosis.

A negative result indicates that the person does not carry any of the mutations studied. There is still a risk that the person carries other (less frequent) mutations which are not analyzed in the test.  

3. Why choose the Igenomix Carrier Screening Test ?

lt is the only clinically vallidated carrier screening test based on next generation massive sequencing (NGS),making it the most complete and precise test available.
lt includes the complete sequencing of more than 549 gene corresponding to more than 600 genetic disorders.

4. Application of the test to the donor bank

At IGENOMIX we offer the test to infertility clinic  patients receiving a sperm or egg donation. The joint study of both the donor and recipient significantly reduces the possibility of having a baby affected by the disorders  studied.

5. Sample collection and shipping

The test requires 5 ml of blood  collected in an EDTA tube which  is transported at room  temperatur and with  the recommended protection: a padded envelope or in the pack sent in the kit. The sample should be sent within a maximum of48 hours.

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6. What is the turnaround time for the results?

30-40 days are required for delivery of the results.

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Test limitations

  •  The sensitivity of the test is 98%.
  • We only analyze genes on the list avallable 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 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.
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