CarrierRef®

Carrier testing

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RefLab CarrierRef®

Determine the risk of transmitting a serious genetic disease to offspring

CarrierRef® is the most comprehensive carrier screening test, combining NGS sequencing with other molecular biology techniques to study >200 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

Test code: 15063, 15048

Sample requirements:

    • 5mL whole blood EDTA
    • 1 RefLabCard®
    • Purified DNA (≥ 30ng/uL in ≥ 100uL)

Informed consent must be sent with the sample

We are not restricted to hotspots. We sequence the whole gene, being able to report new variants.

When is CarrierRef® indicated?

  • Couples planning a pregnancy.
  • In assisted reproduction treatments where donated gametes are used.

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 reduce the risk of transmission to the offspring.

GREATER KNOWLEDGE AND SECURITY

Unlike conven onal techniques, CarrierRef® analyses hundreds of genes thoroughly and reliably. It is the most comprehensive carrier screening: it studies >200 diseases and >4,000 variants.

INCLUDES

  • Most clinically relevant pathogenic gene variants according to RefLab Database® and major international databases.
  • Additional molecular biology techniques to detect pathogenic variants that cannot be determined by NGS.
  • Conclusive medical reports validated by our geneticists.

GENETIC COUNSELLING

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

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%.

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%.

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

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