Carrier testing

RefLab CarrierRef®

What is CarrierRef®?

CarrierRef® is the most comprehensive carrier screening test, combining NGS sequencing with other molecular biology techniques to study >270 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

10 mL whole blood EDTA in a K2 tube.

Informed consent must be sent with the sample

The importance of offering CarrierRef® to your patients

We are all carriers of 4-5 pathogenic genetic variants

Up to 2.3% of couples are carriers of the same pathogenic genetic variant

Carrier couples have an increased risk of having an affected offspring

20% of deaths and 10% of pediatric hospitalizations in developed countries are due to hereditary diseases. CarrierRef® offers early and actionable  information on serious genetic diseases to facilitate family planning, adequate prenatal care and access to prenatal, neonatal and/or pediatric treatments.

Why choose CarrierRef®?


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.


  • Unlike conventional techniques, CarrierRef® analyses hundreds of genes thoroughly and reliably. It is the most comprehensive carrier screening: it studies >200 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is analysed according to the main databases and the most recent scientific literature, avoiding the use of static and outdated lists of mutations.


  • Pre- and postest genetic counselling with our gene cists.
  • We have the experience of Dr. Cristina Camprubí, specialist in reproductive genetics.


  • Most validated carrier screening test, > 380.000 cases (Westemeyer et al. 2020, Genetics in Medicine).
  • 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 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.

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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

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