The Family Carrier Test aims to identify potential risks associated with hereditary conditions by examining variants in both parents. Here's an in-depth guide to help you understand and use this feature effectively.
This test is specifically intended for family cases where both parents' samples are available. It seeks to identify two or more heterozygous variants within the same gene, with at least one variant detected in each parent. The objective is to pinpoint potential pathogenic variants that, when combined, could cause a specific disease or condition in their offspring.
It's important to differentiate the Family Carrier Test from the compound heterozygosity analysis in the proband. While compound heterozygosity focuses on variants inherited by the proband from both parents (constituting only half of the parental variants), the Family Carrier Test directly examines all variants in the parents' VCF files.
Once a Trio Case has completed processing, you can generate an Excel "Family Carrier Test" by clicking the three dots menu next to the case name and selecting the "Download Family Carrier Test" option.
This file contains a comprehensive list of variants that meet the below specific criteria and thresholds:
Presence of two or more variants in the same gene, at least one variant is identified in each parent, that zygosity is heterozygote AND confidence is High or Medium AND depth>20 AND family inheritance model is Autosomal Recessive or Unknown. Additionally, these variants must be classified as
Pathogenic by Franklin automated classification OR
Pathogenic or Likely Pathogenic Loss of Function by Franklin automated classification OR
Pathogenic or Likely Pathogenic in ClinVar
If you have any further questions or require assistance regarding the "Family Carrier Test" or any other features, please feel free to reach out to our Support Team.