The test that evaluates genetic compatibility between couples before pregnancy.
CarrierSafe®
What is carrier testing?
It is a genetic test that, from a blood sample, identifies whether prospective parents are carriers of a recessive genetic disease that they can pass on to their children.
We present the new CarrierSafe® carrier panel for the screening of autosomal recessive X-linked diseases.
A carrier may be healthy and unaware that they carry pathogenic variants in their genome that can lead to severe genetic disease in their offspring if their partner/donor also carries pathogenic variants in the same gene.
It is estimated that each person carries up to 7 pathogenic variants that can lead to severe genetic disease (Bell et al, 2011).
Who is it suitable for?
• Couples with the idea of starting a family.
• Gamete donors and recipients.
• Reproduction clinics and gamete banks, to analyse donors.
• Anyone who wants to know if they are carriers of the genetic diseases included in CarrierSafe®.
What does CarrierSafe® give you?
If I am a carrier of a variant, I may be a healthy person, but since there is no therapy for the pathology, preventing my child from suffering from the disease becomes a priority.
CarrierSafe® is one of the most versatile products and can be complemented with results from other methodologies (genetic matching).
CarrrierSafe®
Process
Your doctor prescribes
CarrierSafe®
Collection of 3mL of
EDTA* blood
Reception of the sample
in our laboratory
Sending of the report
in 15 working days
Your doctor will
explain the results
CarrierSafe®
3 OPTIONS
STANDARD
METHODOLOGY: MLPA, fragment analysis and Sanger sequencing
DISEASES: 7
GENES / VARIANTS: 8
PLUS
METODOLOGY: Ion AmpliSeq™
DISEASES: 45
GENES / VARIANTS: 45/>8400
COVERAGE: 99’94% in silico and CDS+25 bp for 420 genes >200X (minimum 25-30 reads per region)
COMPLEMENTARY TESTS: Fragile X and Thalassemias
ADVANCED
METODOLOGY: Ion AmpliSeq™
DISEASES: 418
GENES / VARIANTS: 420/>38000
COVERAGE: 99’94% in silico and CDS+25 bp for 420 genes >200X (minimum 25-30 reads per region)
COMPLEMENTARY TESTS: Fragile X and Thalassemias
CarrierSafe®
Inheritance results
> In autosomal recessive disease
> In X-linked disease
CarrierSafe®
What does the report include?
> List of pathogenic or probably pathogenic variants detected in each individual.
> Relative associated risk and the probability of having offspring with the disease.
> Description of the variant detected, of the associated disease as well as brief indications on prognosis and treatment.
> Inheritance pattern.
