NGS 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 analysis mutations in 298 genes which cause recessive 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%.

Our new panel includes in a single test:

• NGS of 298 genes for recessive disease including cystic fibrosis, beta thalassemia, etc
• Spinal muscular atrophy (SMN1 deletion analysis)
• Fragile-X (triplet repeat quantification)

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2. Why taking a Carrier Screening?

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.