Familial Variant Testing is a targeted genetic test used to determine whether a known genetic mutation, previously identified in a family member (the proband), is present in other relatives. Instead of analyzing entire genes or panels, this test focuses only on the specific variant, making it faster, more affordable, and highly accurate. It’s commonly used for confirming carrier status, assessing inherited risk, and guiding medical decisions for conditions like hereditary cancers or heart diseases. It also helps clarify uncertain variants (VUS) by tracking their presence across family members. However, it won’t detect new or unrelated mutations outside the tested variant.
Choosing Familial Variant Testing means opting for a focused, efficient, and reliable way to understand your inherited genetic risk. If a specific mutation has already been identified in your family, this test allows you to find out quickly and accurately whether you carry the same variant. It’s a smart choice for those seeking clarity, peace of mind, and informed health decisions. While familial variant testing is widely used in North America and Europe, uptake in developing regions is growing due to increasing awareness, affordability, and integration with newborn and reproductive screening programs.
Familial Variant Testing is recommended for individuals who have a known genetic variant identified in a biological relative. It helps assess personal risk, guide medical care, and support informed decision-making.
You should consider this test if:
Discuss your symptoms, family history, and concerns with your specialist.
A small sample of blood or saliva is collected at your testing center.
The lab reviews the genetic report of your family member (proband) to identify the exact variant previously found.
Using advanced methods like Sanger sequencing or NGS, the lab tests only for the specific variant not the entire gene or genome.
Every result undergoes strict quality checks and interpretation by certified genetic specialists.
Your doctor or genetic counselor will receive a clear, focused report stating whether the tested variant is present or absent.
Genetic counseling helps you understand what the results mean for your health, future planning, and family members.
Our fully integrated E-Lab platform offers online test ordering, real-time tracking, and secure digital reporting bringing convenience and control to both physicians and patients across the country.
From routine blood tests to complex genetic panels, we leverage cutting-edge platforms like NGS, PCR, and AI-powered analytics for maximum accuracy and clinical relevance.
With lab facilities based in Florida, we ensure faster processing times and direct access to our expert team. You get timely results backed by responsive, local customer support.
At E-lab, we are dedicated to innovation, collaboration, and seamless growth.