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 the varvis® software so that cases can be solved with just a few clicks.
Carrier screening in the varvis® software 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. The varvis® software combines the results, and the 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
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 the varvis® software, virtual panels give you the flexibility to apply various tiers and gene panels for carrier screening analysis as recommended by the guidelines.
Automated shortlisting of variants
A single click workflow helps in shortlisting of variants based on genotype and segregation.
See for yourself how the varvis® software can accelerate your laboratory workflows
and increase your diagnostic yield.
learn more
VARVIS® BLOG
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.
VARVIS® ACADEMY
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® BLOG
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.