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Variant Specific Testing

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Variant Specific Testing

Variant Specific Testing is a genetic test that targets a known genetic variant previously identified in a family member. Instead of analyzing the entire gene or genome, this test focuses on a specific mutation, making it faster, more cost-effective, and accurate. It is especially useful for family members of individuals already diagnosed with a genetic condition, helping determine whether they carry the same variant. This testing plays a key role in early diagnosis, risk assessment, and guiding preventive healthcare decisions. It is commonly used in inherited conditions like cancer syndromes, heart disorders, and other familial genetic diseases.

Why Choose This Variant Specific Testing?

Variant Specific Testing is used when a specific genetic variant has already been identified in a family member with a hereditary condition. It helps determine whether other relatives also carry the same variant, enabling early diagnosis, targeted prevention, and informed medical or reproductive decisions. This test is ideal for families with a known inherited risk, providing a quick, cost-effective way to assess genetic status without broad screening.

When Is It Used?
  • After identifying a known genetic variant in a family member
  • To test at risk relatives for the same variant
  • For early detection of inherited conditions
  • In family planning and reproductive decision-making
  • Before starting preventive or personalized treatment
  • To confirm or rule out carrier status
Who Should Consider Variant Specific Testing?

Individuals with a family history of a confirmed genetic mutation should consider Variant Specific Testing. It is especially beneficial for those whose close relatives have tested positive for a known disease-causing variant. This testing helps determine personal risk, enables early detection, and supports informed medical and lifestyle decisions.

You should consider this test if:

  • People with a personal or family history of hereditary diseases
  • Individuals advised by a genetic counselor or healthcare provider
  • Relatives of patients diagnosed with inherited cancer syndromes
  • Those with unexplained symptoms linked to a known familial mutation
  • Individuals interested in carrier screening for recessive conditions
  • Patients seeking clarity on ambiguous or previous genetic test results
  • Those wanting to avoid broad, more expensive genetic tests
  • People aiming for precise risk assessment for chronic or rare disorders
  • Individuals preparing for personalized treatment plans based on genetics
  • Anyone wanting peace of mind about their genetic health status
How We Work
How is the Test Performed?

Step 1

Referral & Counseling

A healthcare provider or genetic counselor reviews your family history and confirms the known variant.

Step 2

Sample Collection

A blood or saliva sample is collected for DNA analysis.

Step 3

DNA Extraction

The lab extracts DNA from your sample to prepare for testing.

Step 4

Targeted Analysis

Only the specific variant identified in your relative is tested.

Step 5

Result Interpretation

A geneticist interprets the results to confirm presence or absence of the variant.

Step 6

Report & Guidance

Results are shared with you along with genetic counseling for next steps.

Our Services
Just a few of the many health issues we screen for
Gaucher Disease

A rare genetic disorder causing fatty substance buildup in organs and bones; caused by GBA gene mutations, leading to anemia, bone pain, and organ enlargement.

Retinitis Pigmentosa

A group of inherited eye disorders causing progressive vision loss; mutations affect the retina’s ability to respond to light, often leading to blindness.

Marfan Syndrome

A connective tissue disorder affecting the heart, eyes, blood vessels, and skeleton; caused by inherited mutations in the FBN1 gene affecting body structure.

Alpha-1 Antitrypsin Deficiency

An inherited condition causing low levels of a protective lung protein; can lead to early-onset emphysema or liver disease in children and adults.

Spinal Muscular Atrophy (SMA)

A neuromuscular disorder causing progressive muscle weakness and wasting, often beginning in infancy; caused by mutations in the SMN1 gene.

Familial Adenomatous Polyposis (FAP)

An inherited condition leading to hundreds of colon polyps and cancer risk; caused by mutations in the APC gene, requiring early detection and intervention.

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.

Get your free estimate!

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  • Comprehensive Thyroid Panel
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  • 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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