Familial Variant Test
Familial Variant Testing helps determine whether relatives carry a previously identified genetic variant that has already been detected within the family.
What this service helps with
Familial Variant Testing helps determine whether relatives carry a previously identified genetic variant that has already been detected within the family.
How it supports the diagnostic journey
Additional information
Familial Variant Testing is a targeted genetic test performed when a disease-causing genetic variant has already been identified in a family member.
Instead of repeating broad genetic investigations, this test focuses specifically on the known familial variant, allowing relatives to understand whether they carry the same genetic change.
Familial testing may support medical follow-up, family planning discussions, risk assessment, and healthcare decisions for other family members. It is often considered after a diagnosis has already been established in a parent, child, sibling, or close relative.
At Mass Diagnostics, familial variant testing is coordinated through trusted international partner laboratories with support for sample collection, laboratory communication, and report delivery.
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