SLC52A1 Gene Riboflavin Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Riboflavin Transport Disorders
The SLC52A1 Gene Riboflavin Deficiency NGS Genetic DNA Test represents a breakthrough in diagnosing rare metabolic disorders affecting vitamin B2 transport. This advanced genetic test specifically targets mutations in the SLC52A1 gene, which encodes riboflavin transporter 1 (RFVT1) – a critical protein responsible for cellular uptake of riboflavin. When this transporter malfunctions, it leads to Brown-Vialetto-Van Laere syndrome, a progressive neurological disorder that can cause severe disability if left untreated.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the SLC52A1 gene to identify:
- Pathogenic mutations affecting riboflavin transporter function
- Missense, nonsense, and frameshift variants
- Splice site mutations impacting gene expression
- Copy number variations and deletions
- Novel genetic variants with potential clinical significance
The test utilizes Next-Generation Sequencing technology, providing unparalleled accuracy in detecting even rare genetic variants that conventional methods might miss.
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Progressive muscle weakness and atrophy
- Sensorineural hearing loss developing in childhood or adolescence
- Vision problems including optic atrophy
- Respiratory difficulties and breathing problems
- Developmental delays or regression in motor skills
- Family history of similar neurological symptoms
- Unexplained metabolic disorders unresponsive to conventional treatments
Significant Benefits of Early Genetic Testing
Early diagnosis through SLC52A1 genetic testing offers multiple advantages:
- Targeted Treatment: Enables precise riboflavin supplementation therapy
- Symptom Prevention: Early intervention can prevent neurological deterioration
- Family Planning: Provides crucial information for genetic counseling
- Accurate Diagnosis: Differentiates from other similar neurological conditions
- Improved Outcomes: Timely treatment significantly enhances quality of life
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates pathogenic mutation(s) in SLC52A1 gene, confirming riboflavin transporter deficiency diagnosis
- Negative Result: No disease-causing variants detected in SLC52A1 gene
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene
All results are accompanied by detailed clinical guidance and recommendations for next steps, including consultation with metabolic specialists.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC52A1 Gene Riboflavin Deficiency 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) |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified collection centers ensures easy access to genetic testing services.
Take Control of Your Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Early genetic testing for SLC52A1 riboflavin deficiency can provide answers and open doors to effective treatment options. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and targeted treatment.
