MTTP Gene Abetalipoproteinemia NGS Genetic DNA Test
Comprehensive Genetic Testing for Fat Metabolism Disorders
The MTTP Gene Abetalipoproteinemia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This sophisticated test utilizes next-generation sequencing technology to analyze the microsomal triglyceride transfer protein (MTTP) gene, which plays a crucial role in the assembly and secretion of lipoproteins essential for fat absorption and transport throughout the body.
What Does This Test Measure?
This advanced genetic test specifically targets and sequences the entire MTTP gene to identify pathogenic variants that cause abetalipoproteinemia. The test detects:
- Point mutations in the MTTP gene coding regions
- Small insertions and deletions affecting protein function
- Splice site variants that disrupt normal gene expression
- Compound heterozygous mutations in autosomal recessive inheritance
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of fat metabolism disorders, including:
- Infants and children with failure to thrive and chronic diarrhea
- Patients with severe fat malabsorption and steatorrhea
- Individuals with neurological symptoms including ataxia, peripheral neuropathy, or retinopathy
- Those with documented deficiencies in fat-soluble vitamins (A, D, E, K)
- Family members of individuals diagnosed with abetalipoproteinemia
- Patients with acanthocytosis (spur-shaped red blood cells) on peripheral smear
Clinical Benefits of Genetic Testing
Early genetic diagnosis through the MTTP Gene Abetalipoproteinemia Test provides numerous clinical advantages:
- Precise Diagnosis: Confirms abetalipoproteinemia and differentiates from similar conditions
- Personalized Treatment: Enables targeted nutritional management and vitamin supplementation
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Allows for timely management to prevent neurological damage
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and clinicians:
- Positive Result: Identification of pathogenic MTTP gene mutations confirms abetalipoproteinemia diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation is essential
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of single mutation carriers in autosomal recessive inheritance pattern
All positive results include detailed interpretation and recommendations for clinical management, dietary modifications, and appropriate follow-up care.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | MTTP Gene Abetalipoproteinemia NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| 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 | Metabolic Genetics |
Pre-Test Requirements
Before undergoing the MTTP Gene Abetalipoproteinemia NGS Genetic DNA Test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of detailed family pedigree chart
- Review of potential insurance coverage and out-of-pocket costs
- Discussion of possible results and their clinical significance
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your health and quality of life. The MTTP Gene Abetalipoproteinemia NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management of this rare metabolic disorder.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are available to answer your questions and guide you through the testing process.
Early genetic diagnosis can significantly improve outcomes and quality of life for individuals with abetalipoproteinemia. Take the first step toward comprehensive genetic understanding and personalized medical care.
