SAR1B Gene Chylomicron Retention Disease NGS Genetic DNA Test
Understanding Chylomicron Retention Disease
Chylomicron retention disease, also known as Anderson’s disease, is a rare autosomal recessive disorder characterized by the inability to properly absorb dietary fats and fat-soluble vitamins. This condition results from mutations in the SAR1B gene, which plays a critical role in the intracellular transport of chylomicrons from the endoplasmic reticulum to the Golgi apparatus in intestinal epithelial cells.
What This Advanced Genetic Test Detects
The SAR1B Gene Chylomicron Retention Disease NGS Genetic DNA Test utilizes state-of-the-art Next-Generation Sequencing technology to comprehensively analyze the SAR1B gene for pathogenic variants. This sophisticated testing approach identifies:
- Point mutations affecting protein function
- Small insertions and deletions disrupting gene expression
- Missense, nonsense, and splice-site mutations
- Compound heterozygous mutations in affected individuals
- Carrier status in family members
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with clinical symptoms suggestive of chylomicron retention disease, including:
- Infants and children with failure to thrive despite adequate caloric intake
- Patients experiencing chronic diarrhea and steatorrhea (fatty stools)
- Individuals with fat-soluble vitamin deficiencies (A, D, E, K)
- Cases of acanthocytosis (abnormal red blood cell morphology)
- Patients with unexplained neurological symptoms related to vitamin E deficiency
- Individuals with family history of similar gastrointestinal and metabolic issues
Significant Benefits of Genetic Testing
Undergoing the SAR1B Gene Chylomicron Retention Disease NGS Genetic DNA Test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms the genetic basis of symptoms, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted dietary interventions and vitamin supplementation
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management to prevent complications
- Prognostic Information: Helps predict disease progression and long-term outcomes
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results with detailed interpretation:
- Positive Result: Identifies pathogenic mutations confirming chylomicron retention disease diagnosis
- Carrier Status: Indicates individuals with one mutated copy who may pass the condition to offspring
- Negative Result: Suggests alternative diagnoses when clinical symptoms persist
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
All results include detailed explanations and recommendations for follow-up care with qualified genetic counselors and metabolic specialists.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- 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
- Specialty: General Physician and Genetics
- Disease Category: Metabolic Disorders
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with qualified professionals
- Development of detailed pedigree chart documenting affected family members
- Discussion of potential implications and limitations of genetic testing
Nationwide Testing Availability
General Genetics Corporation provides comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Clarity
Don’t let uncertainty about rare metabolic conditions affect your quality of life. The SAR1B Gene Chylomicron Retention Disease NGS Genetic DNA Test provides definitive answers and empowers informed healthcare decisions. Our experienced genetic counselors are available to discuss your specific situation and guide you through the testing process.
Book your appointment today by calling +1(267) 388-9828 or schedule your genetic counseling session through our secure online portal. Take control of your genetic health with the precision and expertise of General Genetics Corporation.
