TTR Gene Amyloidosis NGS Genetic DNA Test
Understanding Hereditary Transthyretin Amyloidosis
Hereditary transthyretin amyloidosis (hATTR) is a rare, progressive genetic disorder caused by mutations in the TTR gene, which encodes the transthyretin protein. This condition leads to the accumulation of abnormal protein deposits (amyloid fibrils) in various tissues and organs, particularly affecting the nervous system and heart. The TTR Gene Amyloidosis NGS Genetic DNA Test represents a breakthrough in precision medicine, offering comprehensive analysis of the TTR gene using cutting-edge next-generation sequencing technology.
What Does This Test Detect?
Our advanced NGS-based test specifically examines the entire TTR gene to identify pathogenic mutations responsible for hereditary amyloidosis. The test detects:
- Single nucleotide variants (SNVs) in the TTR gene
- Small insertions and deletions (indels)
- Known pathogenic mutations associated with familial amyloid polyneuropathy
- Novel genetic variations with potential clinical significance
- Carrier status for hereditary transmission risk assessment
Clinical Significance of TTR Gene Mutations
Mutations in the TTR gene disrupt the normal structure and function of transthyretin protein, causing it to misfold and form amyloid deposits. These deposits progressively damage peripheral nerves, autonomic nervous system, and cardiac tissue, leading to debilitating symptoms and reduced life expectancy if left undiagnosed.
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Unexplained peripheral neuropathy symptoms (tingling, numbness, weakness)
- Autonomic dysfunction (orthostatic hypotension, gastrointestinal issues)
- Cardiac abnormalities without clear cause
- Family history of amyloidosis or unexplained neurological disorders
- Progressive sensory loss in extremities
- Unexplained weight loss and fatigue with neurological symptoms
- Carpal tunnel syndrome, particularly if bilateral
Family History Considerations
Individuals with first-degree relatives diagnosed with hATTR or those from geographic regions with higher prevalence (Portugal, Sweden, Japan) should strongly consider genetic testing for early intervention and family planning purposes.
Benefits of Early Genetic Testing
Early detection through TTR gene testing provides numerous advantages:
- Proactive Treatment Planning: Enables timely intervention with disease-modifying therapies
- Family Risk Assessment: Identifies at-risk family members for preventive monitoring
- Accurate Diagnosis: Differentiates hATTR from other neurological conditions
- Reproductive Planning: Informs family planning decisions and prenatal testing options
- Clinical Trial Eligibility: Opens access to emerging treatments and research studies
- Symptom Management: Facilitates targeted symptom control and quality of life improvements
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret results effectively:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic TTR gene mutation. This confirms hereditary transthyretin amyloidosis diagnosis and enables:
- Immediate referral to specialized amyloidosis treatment centers
- Initiation of appropriate disease-modifying therapies
- Regular monitoring for disease progression
- Family member testing recommendations
Negative Result Interpretation
A negative result suggests no detectable pathogenic TTR mutations. However, clinical follow-up may still be necessary if symptoms persist, as other forms of amyloidosis or neurological conditions could be present.
Variant of Uncertain Significance (VUS)
In rare cases, genetic variations of unknown clinical significance may be identified. These require ongoing monitoring and periodic re-evaluation as scientific knowledge advances.
Test Pricing and Details
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurological Genetics
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Informed consent for genetic testing
- Discussion of potential implications for family members
Nationwide Testing Availability
We proudly offer the TTR Gene Amyloidosis NGS Genetic DNA Test across our extensive network of testing centers throughout the United States. Our facilities are conveniently located in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the same high standards of genetic testing excellence and patient care.
Take Control of Your Genetic Health Today
Early detection of hereditary transthyretin amyloidosis can significantly impact disease progression and quality of life. Our comprehensive genetic testing approach, combined with expert genetic counseling, provides the clarity needed for informed healthcare decisions.
Ready to schedule your TTR Gene Amyloidosis NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 to discuss your testing options, schedule an appointment, or learn more about our genetic counseling services. Take the first step toward understanding your genetic health and protecting your future.
Note: This test is performed in CLIA-certified laboratories, and all genetic counseling is provided by board-certified genetic counselors specializing in neurological disorders.
