CarrierRef®
Carrier testing
What is CarrierRef®?
CarrierRef® is the most comprehensive carrier screening test, combining NGS sequencing with other molecular biology techniques to study >360 diseases and >4.000 variants. The diseases
studied in our test have been selected based on the following criteria:
- Clinical relevance
- Severity
- Early presentation of the disease
- Incidence
- Recommendations of the medical societies of gynaecology and genetics
- Existence of treatments or possible early intervention
Test code: 15048
5 mL whole blood EDTA
Informed consent must be sent with the sample
The importance of offering CarrierRef® to your patients
We are all carriers of 14-18 pathogenic genetic variants
Carrier couples have an increased risk of having an affected offspring
Why choose CarrierRef®?
PREVENTION AND PLANNING
It allows us to find out whether the parents are carriers of any pathogenic variant associated with an autosomal recessive genetic disease or linked to the X chromosome, in order to guide them in making informed decisions and prenatal/postnatal plans.
GREATER KNOWLEDGE AND SECURITY
- Unlike conventional techniques, CarrierRef® analyses hundreds of genes thoroughly and reliably. It is the most comprehensive carrier screening: it studies >360 diseases and >4,000 variant.
- Each sample is analysed according to the main databases and the most recent scientific literature, avoiding the use of static and outdated lists of mutations.
GENETIC COUNSELLING
- Pre- and postest genetic counselling with our gene cists.
- We have the experience of Dr. Cristina Camprubí, specialist in reproductive genetics.
ADVANTAGES OVER OTHER TESTS
- Complete sequencing of each gene by using NGS, guaranteeing maximum clinical sensitivity.
- Additional molecular biology techniques to detect pathogenic variants that cannot be determined by NGS.
- AGG interruptions for Fragile X, not included in most carrier screening tests, which estimate the risk only on the basis of CGG repeats (modified risk in > 83% of carriers in a premutation).
- Silent carrier analysis for Spinal Muscular Atrophy (SMA), improving the detection rate by 5-8%.
- Detection of Thalassemias, Haemoglobinopathies and Duchenne Muscular Dystrophy (DMD).
- Detection of Congenital Adrenal Hyperplasia carriers (CYP21A2).
- Detection of 25% more carriers of Cystic Fibrosis than usual screenings, due to NGS technology.
- Conclusive medical reports validated by our geneticists.
When is CarrierRef® indicated?
- Couples planning a pregnancy
- In assisted reproduction treatments where donated gametes are used
Risk assessment in patients with positive results
Autosomal Recessive Inheritance
Most people are asymptomatic carriers of some autosomal recessive genetic diseases. If both biological parents are carriers of a mutation in the same gene, the risk that the offspring will present the disease is 25%.
X-linked Inheritance
A woman who is a carrier and does not suffer from a genetic disease linked to the X chromosome can ignore her carrier status and transmit the mutation to 50% of her offspring. In each pregnancy, the patient will have a 25% chance of having an affected offspring.
How to order?
Check our sample requirements
Genetic Counseling Support
Ordering a test or Service from
us is simple and quick
We accept a wide range
of samples
Get pre and postanalysis
genetic counseling
How to order?
Ordering a test or Service from
us is simple and quick
Check our sample requirements
We accept a wide range
of samples
Genetic Counseling Support
Get pre and postanalysis
genetic counseling