BSND Gene Bartter Syndrome Type 4A NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bartter Syndrome Type 4A
The BSND Gene Bartter Syndrome Type 4A NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the BSND gene, which encodes the barttin protein. This specialized genetic test utilizes next-generation sequencing (NGS) technology to provide comprehensive analysis of the BSND gene, enabling accurate diagnosis of Bartter syndrome type 4A, a rare autosomal recessive disorder affecting kidney function and hearing.
What This Test Measures and Detects
This advanced genetic test specifically targets and sequences the BSND gene to identify pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Copy number variations in the BSND gene region
The BSND gene plays a critical role in chloride channel function in the kidney’s thick ascending limb of Henle and in the inner ear. Mutations in this gene disrupt normal chloride transport, leading to the characteristic features of Bartter syndrome type 4A.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of Bartter syndrome type 4A, including:
- Infants and children with polyuria and polydipsia
- Patients with salt wasting and electrolyte imbalances
- Individuals with growth retardation and failure to thrive
- Patients with sensorineural hearing loss
- Those with hypokalemic metabolic alkalosis
- Individuals with elevated renin and aldosterone levels
- Patients with family history of Bartter syndrome
- Newborns with prenatal onset of polyhydramnios
Clinical Benefits of BSND Genetic Testing
Undergoing BSND gene testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Bartter syndrome type 4A with molecular precision
- Personalized Treatment: Guides targeted therapeutic interventions
- Genetic Counseling: Enables informed family planning decisions
- Early Intervention: Facilitates timely management of complications
- Prognostic Information: Helps predict disease progression and outcomes
- Differential Diagnosis: Distinguishes from other forms of Bartter syndrome
Understanding Your Test Results
Your BSND genetic test results will be carefully interpreted by our expert geneticists and clinicians:
- Positive Result: Indicates the presence of pathogenic mutations in the BSND gene, confirming Bartter syndrome type 4A diagnosis
- Negative Result: Suggests absence of detectable BSND mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with single mutation who may pass the condition to offspring
All results include comprehensive interpretation and recommendations for clinical management, follow-up testing, and genetic counseling.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | BSND Gene Bartter Syndrome Type 4A 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) Technology |
| Specialty | Genetics, Hepatology, Nephrology, Endocrinology |
Pre-Test Requirements
Before scheduling your BSND genetic test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Documentation of affected family members with BSND-related conditions
- Informed consent for genetic testing
- Insurance pre-authorization if applicable
Nationwide Testing Availability
We proudly offer BSND genetic testing services across the United States with convenient locations in:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Our state-of-the-art genetic testing facilities ensure accurate, reliable results with comprehensive clinical support and genetic counseling services.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about Bartter syndrome type 4A affect your health decisions. Our expert genetic testing team is ready to provide the answers you need for proper diagnosis and management. With our advanced NGS technology and experienced clinical geneticists, you can trust in the accuracy and reliability of your BSND genetic test results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your BSND Gene Bartter Syndrome Type 4A NGS Genetic DNA Test and take control of your genetic health journey.
Our dedicated genetic counselors are available to discuss your testing options, answer questions about the procedure, and help you understand how genetic testing can benefit your specific situation. Early diagnosis through genetic testing can significantly improve treatment outcomes and quality of life for individuals with Bartter syndrome type 4A.
