SLC52A2 Gene Brown-Vialetto-Van Laere Syndrome Type 2 NGS Genetic DNA Test
Understanding SLC52A2 Gene Brown-Vialetto-Van Laere Syndrome Type 2
Brown-Vialetto-Van Laere Syndrome Type 2 (BVVL2) is a rare autosomal recessive neurological disorder characterized by progressive sensorineural hearing loss, bulbar palsy, and respiratory difficulties. This condition results from mutations in the SLC52A2 gene, which encodes a riboflavin transporter protein essential for proper neurological function. Our advanced NGS Genetic DNA Test provides comprehensive analysis to identify these genetic mutations, enabling accurate diagnosis and personalized treatment approaches.
What Does This Test Detect?
This sophisticated genetic test specifically targets and analyzes the SLC52A2 gene using Next-Generation Sequencing technology to identify:
- Pathogenic mutations in the SLC52A2 gene
- Single nucleotide variants and small insertions/deletions
- Compound heterozygous mutations
- Novel genetic variants associated with BVVL2
- Carrier status for family members
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing:
- Progressive sensorineural hearing loss beginning in childhood or adolescence
- Bulbar symptoms including facial weakness, dysphagia, and dysarthria
- Respiratory difficulties and weakness
- Muscle weakness and atrophy
- Family history of similar neurological symptoms
- Unexplained neurological deterioration
- Couples planning pregnancy with family history of neurological disorders
Clinical Benefits of SLC52A2 Genetic Testing
Early and accurate genetic diagnosis provides numerous clinical advantages:
- Precise Diagnosis: Confirms BVVL2 syndrome, distinguishing it from other neurological conditions
- Treatment Guidance: Identifies patients who may benefit from high-dose riboflavin therapy
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides comprehensive risk assessment for family members
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Identifies pathogenic mutations confirming BVVL2 diagnosis, enabling immediate intervention with riboflavin supplementation
- Negative Result: No SLC52A2 mutations detected, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC52A2 Gene Brown-Vialetto-Van Laere Syndrome Type 2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing services with consistent quality standards nationwide.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of Brown-Vialetto-Van Laere Syndrome Type 2, don’t delay in seeking genetic answers. Our specialized team of genetic counselors and medical professionals are 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 counseling session and book your SLC52A2 genetic test. Early diagnosis can significantly impact treatment outcomes and quality of life.
