Carrier screening

Carrier screening aims to determine the carrier status of healthy parents for recessive disorders, including X-linked recessive diseases. Even the most complex scenarios are well covered in a single carrier screening filter in varvis® so that cases can be solved with just a few clicks.


Carrier screening in varvis® is seamless with several useful and convenient features integrated into the workflow. 


Automated shortlisting
of variants


Integrated SNV and CNV workflow


Quick and easy interpretation and classification

Automated screening for recessive disorders

A single-click workflow considers factors such as the affection status and genotype so that only variants that fit the segregation pattern for carrier screening are displayed. Therefore, no manual work in ruling out variants based on segregation.

What if the second variant is a CNV?

No need to switch between SNV and CNV analysis to figure out the presence of a second variant. varvis® combines the results and presence/absence of both CNV and SNV is considered for segregation calculation.

Expanded carrier screening built-in

Expanded carrier screening can be performed within minutes with just a few clicks. A single-click variant shortlisting, along with integration of CNV with SNV, HPO similarity score and the centralized annotation service makes the analysis convenient and accelerates your diagnostic workflow.

carrier screening - an advanced workflow

Expedite carrier screening with the HPO SimScore, virtual panels, automated shortlisting of variants 

varvis® software - Virtual panels


Screen cases with a family history effortlessly

Screen cases with a family history swiftly by recording the clinical information. In cases where family history and phenotypes are known, our proprietary HPO similarity score helps a great deal in identification of causative variants. Prioritize the list of variants with respect to the score and focus on the most relevant variants first.


Virtual panels to apply all tiers

Whether it is a gene panel that has been designed by the laboratory or one that has been recommended by organizations such as ACMG and ACOG:

In varvis®, virtual panels give you the flexibility to apply various tiers and gene panels for carrier screening analysis as recommended by the guidelines.

varvis® software - Virtual panels
varvis® software - shortlisting


Automated shortlisting of variants

A single click workflow helps in shortlisting of variants based on genotype and segregation. 

See for yourself how varvis® can accelerate your laboratory workflows
and increase your diagnostic yield.

Let's schedule a demo

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varvis® blog - How to Perform Carrier Screening Using the varvis® Software

How to Perform Carrier Screening Using the varvis® Software

by Yvonne Kasmann, Jun 21, 2021

Carrier screening enables the analysis of two unaffected individuals who might be carriers of disease-causing variants. Here we will show how these variants can quickly be identified in varvis® even for expanded carrier screening tests.

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varvis® Academy - Carrier Screening

Carrier Screening

This course will help the user understand the basics of carrier screening, the tiered-approach of ACMG, and how this is automated in varvis®. Sign up for free.

varvis® Academy

varvis® blog - The new ACMG calculator in varvis®

The new ACMG calculator in varvis®

by Yvonne Kasmann, Dec 18, 2019

varvis® now facilitates clinical variant interpretation in concordance with the ACMG standards and guidelines. The evidence for classification becomes part of your varvis knowledge base.

Read more