Carrier screening
Analysis of 2,216 genes for inherited conditions.
Included in WGSBEFORE CONCEPTION · FAMILY PLANNING
Carrier 2,216
With WGS: genes, molecular karyotyping and KIR.
Carrier screening of 2,216 genes for couples and individuals planning a family. Carrier WGS includes genome-based molecular karyotyping and KIR genotyping. Carrier WES focuses on carrier screening through exome analysis.
2,216carrier-screening genes
CNVmolecular karyotyping included with WGS
KIRgenotyping included with WGS
Couplecombined assessment
Carrier 2,216 · The WGS option
Three layers of information. One WGS package.
Carrier screening, molecular karyotyping and KIR genotyping are included in the Carrier WGS option.
Molecular karyotyping
Genome-wide assessment of deletions and duplications.
Included in WGSKIR genotyping
Complementary immunogenetic information from WGS analysis.
Included in WGSCarrier WES
Carrier screening of the same 2,216 genes, focused on exonic regions.
| Feature | Carrier WGS | Carrier WES |
|---|---|---|
| Carrier screening of 2,216 genes | Included | Included |
| Sequencing scope | Genome: coding and non-coding regions | Exome: primarily exonic regions |
| Molecular karyotyping · genome-wide CNVs | Included | Not included in this package |
| KIR genotyping | Included | Not included in this package |
| Reanalysis potential | Using the available genome data | Using the available exome data |
This comparison describes the specific NeoScreen packages. Clinical analysis, regional coverage and variant classes follow the validated protocol.
The ability to analyse exonic CNVs with WES depends on the protocol. KIR genotyping provides a separate layer of immunogenetic information.
Two carriers. One combined assessment.
When both parents carry pathogenic variants associated with the same autosomal recessive condition:
NV
Parent 1 · carrierNV
Parent 2 · carrierNN
25%Without these specific variants
NV
25%Child who is a carrier
VN
25%Child who is a carrier
VV
25%Child with the condition
25% without the variants50% carrier status25% affected
Schematic example of autosomal recessive inheritance. N: a copy without the specific pathogenic variant · V: a copy with a pathogenic variant. These probabilities apply independently to each pregnancy. Source: MedlinePlus.
What genetic carrier status means
A person may carry a pathogenic or likely pathogenic variant associated with a recessive condition without having apparent symptoms. Carrier screening looks for this information before or during family planning.
Carrier 2,216 covers a broad range of serious autosomal recessive and X-linked conditions. Interpretation goes beyond whether a DNA change was found: it considers the significance of the variant, its relationship to disease and how it may be passed on to a child.
Sources & evidence ↓Who it is for
The test is intended for couples or individuals who want to understand their genetic background before conception or during pregnancy. An early discussion allows more time to understand the results and plan the next steps.
Before conception
To incorporate genetic information into family planning in good time.
During pregnancy
In collaboration with the obstetrician and genetics team, adapting the process to the clinical context.
Individuals
Testing can take place before the partner is tested, with a combined assessment once both results are available.
A known family finding
A known diagnosis or variant should be shared from the start, so that the selected analysis addresses the specific clinical question.
The key information emerges from assessing the couple
Reporting the same gene in both partners is not enough to classify a couple as having a high reproductive risk. The specific variants, their clinical significance and their compatibility with the inheritance pattern must be assessed.
For an autosomal recessive condition, when both parents carry pathogenic variants that can cause the same condition, the usual probabilities in each pregnancy are 25% for an affected child, 50% for a child who is a carrier and 25% for a child who inherits neither of the two specific variants.
This model concerns that particular situation and does not apply to every genetic finding. X-linked conditions follow a different inheritance pattern and require individual interpretation.
The process in pictures
Information gains meaning when assessed together
GeneVariant significanceInheritance pattern
WGS and WES: the scope of each option
WES focuses primarily on exons, the gene regions that encode proteins. WGS captures DNA across the genome, supporting assessment of coding and clinically relevant non-coding regions.
At NeoScreen, both options provide carrier screening of 2,216 genes. Carrier WGS also includes molecular karyotyping and KIR. Regional coverage, variant classes and confirmation requirements are defined by each analysis’s validated protocol.
Small DNA changes
SNVs and small insertions or deletions within the regions covered by the selected method.
RNA splice regions
Assessment of exon–intron boundaries and selected intronic variants, according to the analytical scope.
Molecular karyotyping with WGS
Genome-wide assessment of DNA deletions and duplications as part of the Carrier WGS option.
CNV analysis from WES
Technically possible within covered regions, with a different scope and validation requirements from WGS-based molecular karyotyping.
The process in pictures
WES and WGS: the scope of the analysis
Exons
Intronic regions
Broader WGS scope
Molecular karyotyping and KIR are included in Carrier WGS
WGS-based molecular karyotyping assesses DNA copy-number variants (CNVs), including deletions and duplications, across the genome. Analysis and reporting follow the method’s validated scope.
KIR genotyping adds immunogenetic information about KIR receptors. It is included in Carrier WGS and is interpreted separately from the main carrier-screening analysis, in the appropriate clinical context.
Both analyses use WGS data as part of this package. Carrier WES includes 2,216-gene carrier screening, without the molecular karyotyping and KIR included in Carrier WGS.
Sources & evidence ↓How the test is organised
Accurate information before sampling helps interpretation after the result. Relevant details include personal and family history, previous genetic tests and whether there is an ongoing pregnancy.
01 · Clinical question
The purpose of testing, available information and the appropriate WGS or WES approach are discussed.
02 · Samples and consent
NeoScreen provides specific instructions for collecting and sending an appropriate sample from each person.
03 · Analysis of 2,216 genes
Genetic information is assessed for the conditions and variant categories within the agreed scope.
04 · Combined interpretation
When results are available for both partners, their combined reproductive significance is assessed.
05 · Report and guidance
A clear report is provided, with confirmatory or other testing recommended where necessary.
A report that can inform clinical care
The result connects reported findings with the relevant genes, inheritance patterns and clinical significance. Assessing the couple helps distinguish individual carrier status from a finding that requires more targeted reproductive counselling.
Where required, confirmation using an additional method precedes significant clinical decisions. If a reproductive risk is identified, the genetics team discusses appropriate options with the couple, considering the condition, the stage of family planning and their personal preferences.
A negative result reduces the risk for the conditions examined without eliminating it. Interpretation takes account of the method's limitations and the knowledge available at the time of analysis.
Sources & evidence ↓A genomic dataset that can be reassessed
With WGS, available data can be used for reanalysis when new family information, a new clinical question or a significant advance in scientific knowledge emerges. Reanalysis means a new interpretation and does not necessarily require new sequencing.
The appropriate scope, data availability and terms of reassessment are discussed with NeoScreen. This keeps the information connected to the family's actual needs.
Sources & evidence ↓Frequently asked questions
Do both of us need to be tested?
Assessing both partners provides the combined information needed for many recessive conditions. Testing can be organised together or sequentially, depending on the clinical context.
If I am a carrier, does that mean I have the condition?
For most recessive conditions, carrier status differs from disease. The significance for the individual and family depends on the gene and variant.
If we have a finding in the same gene, is there always a risk to the child?
The specific variants and inheritance pattern need to be assessed. A matching gene name alone is not enough for a clinical conclusion.
Does carrier screening replace testing of the fetus?
Carrier screening concerns the parents and their reproductive information. If specific prenatal investigation is indicated, it is organised separately by the obstetric and genetics teams.
Are molecular karyotyping and KIR included?
Yes. Both analyses are included in Carrier WGS. The Carrier WES package covers genetic carrier screening and does not include molecular karyotyping or KIR.
What does WGS-based molecular karyotyping assess?
It assesses copy-number changes, such as DNA deletions and duplications, according to the validated protocol. For a specific question, such as a balanced chromosomal rearrangement, the need for conventional karyotyping or another complementary test is assessed separately.
Can I obtain the detailed gene list?
Ask NeoScreen for the current list of 2,216 genes, the variant categories assessed and information about additional methods where needed.
Sources & scientific evidence
Service description: NeoScreen information brochure, October 2026 edition, p. 6. Additional process information comes from the detailed Carrier Screening & BabyGen brochure. Gene counts follow the updated edition.
- Gregg et al. · ACMG carrier screening practice resource, 2021 ↗
- ACOG · Carrier Screening ↗
- Marshall et al. · Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease · 2020 ↗
- Lemire et al. · Exome copy number variant detection, analysis, and classification · 2024 ↗
- Song et al. · Efficient and accurate KIR and HLA genotyping with massively parallel sequencing data · 2023 ↗
Knowledge becomes care.NeoScreen · 5,000+ WGS / WES analyses
Scientific Director: Ioannis L. Loukas, Professor, National and Kapodistrian University of Athens
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Begin family planning with information
Our team will explain the WGS and WES options and how the couple's combined assessment is organised.
