Carrier Screening

Our Genetic

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

Order Test

Do you know that

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.

Carrier Screening

is the earliest step to responsible family planning, because most people can be carriers of a disease causing change without knowing it.

Getting tested early

gives future parents the opportunity to make informed decisions.

Gives future couples

the opportunity to review the range of options available to guide pregnancy and family planning.

For individuals with

a Known family history of genetic disease

For individuals from

ethnicities with high incidence of genetic diseases

Appropriate for individuals

with high consanguinity

What you should know about

Carrier Screening

It is the earliest step to responsible family planning, because most people can be carriers of a disease causing change without knowing it.

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.

Offered to individuals considering a pregnancy or in early pregnancy.

It is appropriate for individuals or couples with the following backgrounds:

No family history of genetic disease
A Known family history of genetic disease
High consanguinity
Ethnicities with high incidence of genetic diseases

Carrier Screening options

Depending on the couple and patients’ needs, different Carrier Screening ordering options are available.

complete panel evaluation for 1 Patient
complete panel evaluation for 2 Patient
complete panel evaluation + risk gene analysis partner

We Offer Superior Services

The choice of the appropriate testing strategy and a quick response are key factors to minimize the stress. We assist you at every step of processing your request.

Frequently Asked Questions Carrier Screening

What is the TAT for Carrier Screening Test?

TAT is 15 business days for all testing options. But for our CentoScreen we have the following: SOLO: 25 days, DUO: 25 days and 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).

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

Request a Call Back?

our medical experts are always available for your support before, during and after the analysis.

goanicgeneticlaboratoryservice@gmail.com

+2347068951861