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Carrier Screening With CentoScreen®

The earliest step to responsible family planning.

Order a test  Why Choose CentoScreen?

What Does Carrier Screening Find?

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. Getting tested early gives future parents the opportunity to make informed decisions and review the range of options available to guide pregnancy and family planning. 

Why Choose CENTOGENE?

Distinctive product offering centered around high-quality genetic testing

Strong presence in and access to countries with a high prevalence of rare diseases

CentoCard provides easy logistics for central testing

Rare disease-centric Bio/Databank generates best-in-class medical insights

Deep expertise in rare, metabolic, and neurodegenerative diseases, as well as multiomics enables better diagnostics

Why Choose CentoScreen for Your Patients?

  • Sequencing of coding regions +/- 10 flanking intronic bases of 330 genes
  • Integrated copy number variation (CNV) reporting for 34 genes
  • Includes most relevant disease-causing variants from HGMD®, including deep intronic variants, and proprietary CentoMD® variants
  • Additional analyses for fragile X syndrome, spinal muscular atrophy, and congenital adrenal hyperplasia (FMR1, SMN1 and CYP21A2 genes respectively)
  • ≥99% of targeted genes covered at ≥ 20x sequenced by next generation sequencing
  • Low quality single nucleotide variants (SNVs) and all relevant deletion/insertion variants are confirmed by Sanger sequencing or MLPA/qPCR prior to reporting

Visit Our Online Ordering Portal

CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

Go to CentoPortal

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Who Can Be Offered Carrier Screening With CentoScreen?

CentoScreen can be offered to individuals considering a pregnancy or in early pregnancy. It is appropriate for individuals or couples with the following backgrounds:

CentoScreen Testing Options

Depending on the couple and your patients’ needs, different CentoScreen ordering options are available.

Resources

Downloads

Brochure

CENTOGENE CentoScreen Brochure PDF

CentoScreen Brochure

The earliest step to responsible family planning

Sample Reports

CENTOGENE Sample Report CentoScreen Female Positive PDF

CentoScreen Paired Pack - Female, Positive Findings

CARRIER STATUS CONFIRMED – Pathogenic variant identified

CENTOGENE Sample Report CentoScreen Male Positive PDF

CentoScreen Paired Pack - Male, Positive Findings

CARRIER STATUS CONFIRMED – Pathogenic variant identified

Frequently Asked Questions Carrier Screening

Is the TAT for all three CentoScreen® options the same, i.e. 15 business days?

Yes. TAT is 15 business days for all testing options.

CentoScreen SOLO: 25 days
CentoScreen DUO: 25 days
CentoScreen Paired: 30 days

Would the consent forms/reports include the option for reporting secondary findings?

We do not report ACMG secondary (incidental) findings as this is not the purpose of the test.

However, for a few conditions patients themselves can be identified as being affected for diseases with mild presentation or late-onset forms (eg. Gaucher). Patients should be counseled accordingly and this information is also listed on our request form.

Does the first partner tested have to be female?

This is flexible. Both males and females can be tested first and is determined by the physician.

In such cases where there is no family history of genetic disease and both partners will be tested, testing the female sample first would be logical due to the assessment of X-linked disorders (males would, if carrying such variants, already be impacted as they only have one X chromosome).

Will there be an option for sharing raw data for the carrier screening samples?

No.

Does the paired pack analysis cover testing for Fragile X syndrome?

The panel includes FMR1 repeat expansion analysis which can determine the risk having a child with Fragile X syndrome. However, fragile X syndrome is XLD and either parent could have an expansion in the permutation range that, if transferred to the child could be causative for the syndrome. The way the paired pack analysis is set up, we can exclude that the initially tested partner transmits the possibly pathogenic allele, but since the initial or first partner would be negative we would not activate the analysis for the second partner. This means that we cannot completely assess the risk of passing on fragile X syndrome to their children. The clinician would need to order FMR1 separately or order the duo analysis to be absolutely sure.

Are reported variants validated?

Based on previous analyses of several tens of thousands of cases, CENTOGENE has defined quality criteria for single nucleotide variants (SNVs), which when met, show 100% concordance with Sanger sequencing. Therefore, for SNVs that meet our quality parameters, NGS approaches the same level of validity as Sanger sequencing and additional Sanger sequencing does not provide any additional information.

However, the following variants if chosen for reporting are always confirmed by an orthologous method:

  • SNVs that do not meet our quality thresholds – by Sanger sequencing
  • All relevant deletion/insertion variants are confirmed by Sanger sequencing or MLPA/qPCR

Related Webinars

Illumina and CENTOGENE: Using NIPT to Screen for the Most Common Fetal Chromosomal Abnormalities

Everybody is talking about it: Non-invasive prenatal testing (NIPT) to screen for the most common fetal chromosomal abnormalities. With CentoNIPT® CENTOGENE now offers non-invasive prenatal testing […]

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