APOB Gene Hypobetalipoproteinemia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Lipid Metabolism Disorders
The APOB Gene Hypobetalipoproteinemia Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited lipid disorders. This advanced test utilizes next-generation sequencing technology to identify specific mutations in the APOB gene that cause familial hypobetalipoproteinemia type 1, a rare genetic condition characterized by abnormally low levels of LDL cholesterol and apolipoprotein B in the bloodstream.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the APOB gene, which plays a crucial role in lipid metabolism and cholesterol transport throughout the body. The test detects:
- Point mutations in the APOB gene coding regions
- Small insertions and deletions affecting gene function
- Genetic variants associated with impaired apolipoprotein B production
- Mutations leading to truncated forms of apolipoprotein B
- Specific genetic markers for familial hypobetalipoproteinemia type 1
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing the following symptoms or circumstances:
- Unexplained persistently low LDL cholesterol levels
- Fat malabsorption symptoms including steatorrhea
- Neurological symptoms related to vitamin E deficiency
- Family history of hypobetalipoproteinemia or lipid disorders
- Abnormal liver function tests with no clear cause
- Developmental delays in children with low cholesterol
- Individuals with acanthocytosis (abnormal red blood cells)
- Patients with retinitis pigmentosa and low lipid levels
Significant Benefits of Genetic Testing
Undergoing the APOB Gene Hypobetalipoproteinemia Type 1 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out familial hypobetalipoproteinemia type 1
- Personalized Treatment: Enables targeted nutritional and medical interventions
- Family Planning: Provides crucial information for genetic counseling and family planning decisions
- Early Intervention: Allows for proactive management of potential complications
- Peace of Mind: Reduces uncertainty about unexplained symptoms
- Comprehensive Care: Facilitates coordinated care with multiple specialists
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical professionals:
- Positive Result: Indicates the presence of APOB gene mutations associated with hypobetalipoproteinemia type 1, confirming the diagnosis and guiding appropriate management strategies
- Negative Result: Suggests that APOB gene mutations are not the cause of your symptoms, prompting investigation of alternative diagnoses
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine their clinical significance
- Carrier Status: Identifies individuals who carry one copy of the mutation but may not show symptoms
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | APOB Gene Hypobetalipoproteinemia Type 1 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Preparation Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to hypobetalipoproteinemia symptoms
- Participation in a genetic counseling session
- Development of a detailed pedigree chart documenting family members affected by lipid disorders
- Current medication list and previous test results
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your lipid metabolism symptoms continue. Our APOB Gene Hypobetalipoproteinemia Type 1 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and treatment planning. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your health and make informed decisions about your care.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your health journey.
