At CENTOGENE, we understand the importance of planning for a healthy future. All of us are carriers of at least one genetic condition. Most carriers are healthy with no family history, but they are at risk of passing on a genetic condition to their child.
Carrier screening is a genetic test used to assess the risk of being a carrier of an autosomal recessive or x-linked disease. It provides life-lasting information about an individual’s reproductive risk and their chances of having a child with a genetic disease.
A recessive genetic disease is caused when a variant is present on both genes of a pair (one gene inherited from the mother and the other from the father). Most people can be carriers of a disease-causing change without knowing it.
If both partners are carriers, they have a 25% risk of having an affected child with a recessive genetic disease and a 50% that the child will be a carrier like the parents.
The screening panel includes a large list of inherited conditions including:
By leveraging CentoGenome as our backbone, we provide unparalleled
genomic information, ensuring accurate and reliable results.
for Couples with Low Risk
Accurate Variant Screening
Our test accurately identifies a defined list of more than 60,000 variants* using trusted databases like HGMD, ClinVar, ClinGen, and our curated CENTOGENE Biodatabank. Notably, 6.2% of the variants targeted by this test are unique to the CENTOGENE Biodatabank.
Fast TAT
A variant-based reproductive genetic carrier screening service with a turnaround time of 15 business days.
for Couples with High Risk
Expanded Carrier Screening
Our test covers more than 2,000 genes associated with autosomal recessive and x-linked early-onset disorders, offering an extensive analysis of genetic risks.
Improved Diagnostic Yield
Our test is a comprehensive test that maximizes complex variant detection which makes it a convenient choice for couples.
Using WES as the backbone and including auxiliary analysis to target relevant complex gene variants in CYP21A2**, F8, FMR1, HBA, and SMN1.
for Couples with Low Risk
We offer 3 variant based analysis:
CentoScreen Exome Focused with 141 genes (Solo/Duo),
CentoScreen Exome Focused Plus with 539 genes (Solo/Duo)
and CentoScreen Exome with 1921 genes (Solo/Duo).
Complimentary assays for: CYP21A2**, F8 inversion intron 22
(females), HBA. FMR1 (females), SMN1 and CNV analysis for
DMD (females) and GJB6.
1 Please note: CentoScreen panels are screening tests and the results should be interpreted in the context of screening. Although a negative screening result significantly reduces the risk of being a carrier of a medical condition related to the panel genes, it does not eliminate the risk. A negative result does not rule out the possibility of a genetic condition in the consultand(s) or their offspring.
* For the complete list of variants targeted by this analysis please contact our customer support team or log in your centoportal account.
** Assay limitations apply: CYP21A2 screening analysis can only detect the presence of nonallelic homologous recombination variants.
Carrier screening can help partners make informed decisions and choices regarding family planning that are consistent with their values. It can allow couples to:
Plan their pregnancy based on informed decisions with option for Pre-implantation Genetic Diagnosis (PGD)
Pursue alternate options such as using a sperm or egg donor or adoption
Have prenatal diagnosis during pregnancy, avail specialist care during pregnancy and delivery if necessary
In an autosomal disorder, if both parents are carriers for the same genetic diseases, there is a 25% chance of having an affected child in each pregnancy.
In an X-linked recessive disorder, if the mother is a carrier, there is a 25% chance that she will have an affected male child in each pregnancy.
In cases where the test results identify both you and your partner as carriers for a genetic disease, it is important to know that you have many options you should discuss with your physician or genetic counselor.
If needed, further prenatal testing for the particular genetic disease can be performed at CENTOGENE in a short turnaround time, allowing you enough time to plan further steps, together with your physician and genetic counselor.
When an individual is identified as a carrier of an autosomal recessive disorder, the next step is to determine the partner’s carrier status. When both partners carry the same genetic condition, each pregnancy has a 25% (1 in 4) chance of resulting in a child affected by the autosomal recessive disorder.
For X-linked recessive disorders, a female carrier has a 50% chance of having an affected male child who carries only one mutated copy of the gene.
CentoScreen® carrier testing only needs to be done once in your lifetime for you and your partner. However if you are identified as a carrier and have a new partner, carrier testing is recommended for your new partner.
Once the results are received, your physician will discuss the results with you and your partner and provide you with information on any further follow-up if necessary.
Your physician will receive a downloadable report of your results via our online ordering and results platform, CentoPortal®.
Your test results will be sent to your physician in 15 business days after sample receipt.
CENTOGENE uses an innovative collection method called CentoCard®, a filter card used to collect samples for testing. DNA can be obtained for testing from a few drops of blood spotted on one CentoCard®. CentoCards® can be ordered by your physician online at no additional charge. Alternatively, your physician can also send us 1ml of whole blood in an EDTA tube.
Yes. Centogene offers various testing options for individual and partner testing. You can view the options here.
CentoScreen® is a clinical test that has to be ordered by a physician. You can contact your physician or genetic counselor to discuss if CentoScreen® is appropriate for you and your partner. After your pre-test genetic counseling session, your physician will order the test and send the sample to Centogene for testing with your consent.
Please contact your physician or genetic counselor. If they have questions they can always reach out to our medical experts at CENTOGENE at customer.support(at)centogene(dot)com for more detailed information.
The ideal time for screening is pre-pregnancy. However, individuals can be tested before, during, and after pregnancy. When performed prior to conception, this test provides individuals with a broader range of options.
Our global network of customer support and experts guiding you every step of the way.
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