Familial Variant Testing

Familial Variant Testing

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.

Why Choose This Familial Variant Testing?

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.

When is it Used?
Who Should Consider Familial Variant Testing?

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:

How We Work
How is the Test Performed?
Our Services
Just a few of the many health issues we screen for
Hereditary Breast & Ovarian Cancer

BRCA1 and BRCA2 mutations significantly increase lifetime risk of breast and ovarian cancer, especially in families with early-onset or multiple affected relatives.

Hypertrophic Cardiomyopathy

Genetic mutations in sarcomere proteins lead to thickened heart muscle, increasing risk of sudden cardiac arrest, especially in young or athletic individuals.

Familial Hypercholesterolemia

An inherited disorder marked by dangerously high cholesterol levels, leading to early heart attacks, often passed down through LDLR, APOB, or PCSK9 gene mutations.

Lynch Syndrome

Caused by mutations in DNA mismatch repair genes, this syndrome raises lifetime risk for colorectal, endometrial, and other gastrointestinal or gynecological cancers.

Cystic Fibrosis

Caused by CFTR gene mutations, this chronic disease affects lungs and digestion, producing thick mucus that leads to infections and poor nutrient absorption.

Tay-Sachs Disease

A rare neurodegenerative disorder caused by HEXA gene mutations, leading to progressive deterioration in motor and cognitive function in infants and young children.

Who we Are
Why Choose Us?
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State-of-the-Art Digital Lab Experience

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.

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Advanced Diagnostic Technology

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.

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Fast Turnaround, Local Support

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.

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  • Comprehensive Thyroid Panel
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  • STI/STD Comprehensive Panel (PCR or Blood Tests)
  • Diabetes Panel (HbA1c, Fasting Glucose, Insulin, C-Peptide)
  • Autoimmune Disease Panel
  • Comprehensive Thyroid Panel
  • Comprehensive Thyroid Panel
  • Food Sensitivity & Allergy Testing (IgG/IgE Panels)
  • STI/STD Comprehensive Panel (PCR or Blood Tests)
  • Diabetes Panel (HbA1c, Fasting Glucose, Insulin, C-Peptide)
  • Autoimmune Disease Panel

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