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GeneScreen®

A diagnostic test that identifies healthy carriers of serious transmissible hereditary diseases

For Whom?

The GeneScreentest is suggested in the following cases:
• For couples who plan to become parents naturally or through medically assisted procedures
• For future parents wishing to reduce the risk of a genetic disease in the fetus
• For couples using eterologous fertilization so as to identify a donor that is not a carrier of the same gene mutations as one of the partners in the couple

The exam can be done on one or both people in the couple

What is diagnosed?

GeneScreenallows the couple to learn, through the analysis of their DNA, if they are carriers of serious genetic diseases.

GeneScreenis a diagnostic test that allows multiple testing of more than 700 hereditary diseases, including the most common in the European population, such as Cystic Fibrosis, Sickle Cell Anaemia, Thalassaemia and Hereditary Deafness. The 550 genes examined are chosen according to:

- population incidence of the disease
- phenotype importance at birth

following the American College of Medical Genetics (ACMG) criteria (Grody et al., Genet Med 2013:15:482–483).

GENES EXAMINED

(Format: PDF; Size: 0,5 Mb)

Procedure

 

The test is carried out with a blood sample. The DNA is isolated from the nucleated cells through a complex laboratory analysis and amplified via PCR. Then, with a state-of-the art process Massive Parallel Sequencing (MPS) that uses Next Generation Sequencing (NGS) techniques with ILLUMINA sequencers, 550 genes (exons and adjacent intrionic regions, ± 5 nucleotides) are completely sequenced at high reading depth (Tabele 1)

The resulting genetic sequences are analyzed with an advanced bioinformatics analysis, to find out if mutations are present.

If GeneScreenhas a negative result

No mutations:
this result shows that the test has not detected any mutations in the examined genes.

If GeneScreena positive result

Presence of one or more mutations:
this result shows that the test detected one or more mutations in one or more genes. Mutations detectable through the GeneScreentest may be classified under the following prognosis categories:

A) with known prognostic outcome;
B) with benign outcome since they may be detected in healthy individuals and are not associated with any pathological outcome;
C) with uncertain outcome since they are not yet known or classified by the medical and scientific community.

In case of a desired pregnancy if both partners have a pathological mutation in the same gene our geneticist is available to be consulted.

Accuracy and test limits

Present DNA sequencing techniques are more than 99% accurate. One must remember that GeneScreenevaluates only the genetic diseases and the genes listed in Table 1.
The test does not evaluate other genetic diseases or genes not listed.

A “NEGATIVE” result- (no mutations result for the examined genes) does not exclude the possibility that one is a carrier of a mutation that is in a region of the genome that was not explored during the examination. In some cases, the results of a genetic analysis can show a variation or a DNA mutation with a clinically uncertain result not yet known or classified by the medical and scientific community. The interpretation of genetic variations is based on the most recent knowledge available at the time of the analysis. Such an interpretation could change in the future when new scientific and medical information regarding the genome structure and could influence the evaluation of these variations

Other Tests

  • PrenatalSAFE
  • PrenatalSAFEKaryo
  • PrenatalScreen
  • GeneScreen
  • BreastScreen
  • ColonScreen
  • OncoScreening
  • CardioScreen

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