NGS Carrier Screening Panel

Bioarray Advance - Carrier Screening Panel

Preconception genetic testing for couples and gamete donors

1. What is the Carrier Screening Panel?

The carrier screening panel is a genetic test that simultaneously analyses mutations in at least 420 genes which cause recessive and x-linked inherited pathologies. Diseases with a recessive inheritance pattern, like cystic fibrosis, are those in which the affected subject inherits two mutations, one from each healthy carrier parent. The theoretical risk for these couples is 25%.

There are 3 Bioarray Advance tests:

  • Bioarray Advance High Frequency. Based on a 420 genes panel (390 autosomal recessive and 30 X-linked). The report includes only those genes with high frequency (greater than 1/100) and Fragile-X. It is the ideal panel for donors. If a donor-recipient matching is subsequently required, this uses the information from the 420 genes.
  • Bioarray Advance Expanded. The report includes the information of the 420 genes. Ideal for patients or those centers that prefer to have all the information from their donors.
  • Bioarray Advance Exome. The most comprehensive screening since it is based on whole exome sequencing. More than 1500 genes are analysed and used for the donor-recipient or patient-patient matching.

Bioarray Advance ensures full compatibility with the main platforms in the market, being the most expanded test gene wise. The report is also more compact and educational for patients and donors.

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2. Why take a Carrier Screening test?

The purpose of this test is to know if a person is a healthy carrier of gene mutations related to recessive genetic diseases. The knowledge of someone having a carrier status is extremely valuable to determine the specific reproductive risk and to program suitable medical action aimed at avoiding such risk.

3. Who is this Test For?

a.- General population: couples without a personal or familial genetic disease background who, in a preconceptional context, wish to know their risk of conceiving a child affected by a specific recessive inherited disease.

b.- Consanguineous couples, who have an increased risk of recessive disease occurrence in their offspring.

c.- People of ethnic backgrounds in which some recessive diseases are more prevalent.

d.- Couples that will undergo Assisted Reproduction treatment, as a complement to other diagnostic tests.

e.- In Assisted Reproduction Units the test can be used for sperm/egg donors, for a better selection and risk reduction of recessive disease transmission.