qCarrier® Test. Recessive disease carrier.

qCarrier Test is a laboratory test developed by qGenomics, in collaboration with Dexeus, aimed at determining the carrier status of more than 4,000 mutations that can cause more than 200 recessive genetic diseases impacting quality of life patients. This analysis is carried out by means of the specific study (capture and direct sequencing) of the genes of interest by means of next generation sequencing (NGS).

The test consists of the targeted analysis of a very high number of known mutations in 138 genes (17 linked to the X chromosome) and the complete sequencing of any existing mutation in 72 genes (2 linked to the X chromosome). In addition, it allows us to detect multiple types of mutations (single nucleotide, small insertions / deletions, copy number variants, rearrangements, …). Among the more than 200 genes that cause diseases, variants with a particularly high incidence in the Mediterranean area are included.

Genetics and disease.

The genetic information contained in the genome of people is transmitted from generation to generation and determines, to a large extent, our appearance by controlling the development of our organism, as well as the appearance of an important number of diseases. This information is found within the 23 pairs of chromosomes, packaged in the form of genes. Of each gene we have 2 copies (inherited from father and mother) and when they are altered (mutated) the genetic diseases can manifest.

Autosomal recessive diseases manifest when two mutated copies (or alleles) of the same gene are inherited. For this both father and mother need to be carriers of the disease, that is, both have one altered copy of the gene and that both parents passed on the altered copy to their offspring. A carrier of a genetic mutation causing a recessive disease does not manifest the symptoms of the disease. In fact, we are all carriers of different mutations of recessive diseases, without suffering any clinical manifestation.

When both partners are carriers of recessive mutations of the same gene, there is a 25% chance that their children are affected by the disease, 50% are unaffected carriers, and 25% are free of mutations (non-carriers).

In the case of recessive diseases linked to the X chromosome, the causative gene is found in this sex chromosome. 50% of the offspring of a carrier mother will receive the mutated copy of the gene. The effects of this mutated copy will be very different depending on the sex of the child. While male babies who receive a mutated copy of the gene will be affected and will manifest the disease, baby girls with a single mutated copy do not tend to present clinical manifestations, and will be carriers only (due to the phenomenon called inactivation of the X chromosome, the presence of symptoms cannot be ruled out, though).

Turn-around time: 15 working days from sample reception.

Who can benefit from the qCarrier Test?

Given that it is a test that does not involve any risk to health, anyone who considers having offspring can know their status as carriers of the more than 200 genetic diseases included in the qCarrier Test. This information will be useful for later family planning. Its application is of special interest in the case of:

Oocyte or sperm donors, providing additional guarantees of quality and safety for the recipient couples and offering donors with lower risks of conceiving offspring with a recessive genetic disease.

Couples in assisted reproduction programmes, who want to know  their risk of conceiving a descendant with a genetic disease in more detail.

Couples planning having children, who would like to know their carrier status and be informed about their risk of conceiving a child with a recessive genetic disease.

Download table of genes

Download the informed consent document HERE

Access the order platform Print application form
How to order a test
  1. Identify the adequate test from our service catalogue.
  2. Prepare the test application form and fill in all the information available both for the sample and the clinical record to guarantee highest quality of test results and shortest response time.
  3. It is crucial to correctly identify the sample with patient name or identifier and date of birth.
  4. Print the completed application form and sign it.
  5. Collect the required sample quantity.
  6. Properly prepare the sample shipment along with the application form.
  7. Alternatively, the order can be processed conveniently via our online order platform.
Required specifications for biologic samples
  • Blood – 1 EDTA tube with 3-5 ml (children 1ml minimum)
  • Purified DNA – usually >5 ug, at >50 ng/ul
  • Saliva or buccal swab – Request collection kit
  • Blood on filter paper – A minimum of 10 spots on Guthrie card or filter paper
  • Amniotic fluid – Minimum of 10 ml
  • CVS – Minimum of 2-3 villi
  • Cord blood – Minimum 1 ml
  • Cultured cells – 1 vial of 25 ml, minimum 80% confluence
  • Biopsy or fresh tissue – More than 10 mg of tissue
  • Paraffin-embedded tissue – At least 10 cuts of 20 um
  • cfDNA – 1 tube DNA BCT Streck with 10 ml of blood
How to prepare your sample for shipping

Call us at +34 932.301.270 and we will take care of a smooth sample pick-up and shipping.

How to prepare your sample for shipping?

  • Blood-EDTA, purified DNA, saliva, blood on paper, cord blood, biopsy, … are stable at room temperature for 3 or 4 days. Samples can be sent, adequately protected, by ordinary mail or courier.
  • Amniotic fluid (a minimum of 10 ml collected in a sterile falcon test tube). Can be sent at room temperature and low temperatures should be avoided. Samples should reach our laboratory in no more than 24 hours.
  • Chorionic villi samples must travel in the same way, in a tube with conical bottom FILLED TO CAPACITY with PBS or culture medium.
  • Cultured cells should be shipped at room temperature, in a culture flask filled to capacity with culture medium.
  • Blood for cfDNA analysis: must be shipped at room temperature.